{"id":"https://openalex.org/W2061476769","doi":"https://doi.org/10.1038/jid.2013.370","title":"Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum","display_name":"Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum","publication_year":2013,"publication_date":"2013-09-05","ids":{"openalex":"https://openalex.org/W2061476769","doi":"https://doi.org/10.1038/jid.2013.370","mag":"2061476769","pmid":"https://pubmed.ncbi.nlm.nih.gov/24008425","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3945730"},"language":"en","primary_location":{"id":"doi:10.1038/jid.2013.370","doi":"https://doi.org/10.1038/jid.2013.370","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2013.370","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1038/jid.2013.370","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078146699","display_name":"Qiaoli Li","orcid":"https://orcid.org/0000-0002-8495-7103","observed_orcids":["https://orcid.org/0000-0002-8495-7103"]},"institutions":[{"id":"https://openalex.org/I149251103","display_name":"Thomas Jefferson University","ror":"https://ror.org/00ysqcn41","country_code":"US","type":"education","lineage":["https://openalex.org/I149251103"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Qiaoli Li","raw_affiliation_strings":["Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I149251103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050422007","display_name":"Jill L. Brodsky","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jill L. Brodsky","raw_affiliation_strings":["Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","Division of Endocrinology and Diabetes, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Endocrinology and Diabetes, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049699006","display_name":"Laura Kathleen Conlin","orcid":"https://orcid.org/0000-0003-2330-8158","observed_orcids":["https://orcid.org/0000-0003-2330-8158"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Laura K. Conlin","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, USA","Department of Pathology & Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Pathology & Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063084227","display_name":"Bruce Pawel","orcid":"https://orcid.org/0000-0001-7678-5324","observed_orcids":["https://orcid.org/0000-0001-7678-5324"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bruce Pawel","raw_affiliation_strings":["Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, USA","Department of Pathology & Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Pathology & Laboratory Medicine, Children\u2019s Hospital of Philadelphia, Philadelphia, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033923948","display_name":"Andrew C. Glatz","orcid":"https://orcid.org/0000-0003-3791-8280","observed_orcids":["https://orcid.org/0000-0003-3791-8280"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew C. Glatz","raw_affiliation_strings":["Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","Division of Cardiology, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Cardiology, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002423539","display_name":"Rachel Ilana Gafni","orcid":"https://orcid.org/0000-0002-7970-3491","observed_orcids":["https://orcid.org/0000-0002-7970-3491"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210088259","display_name":"National Institute of Dental and Craniofacial Research","ror":"https://ror.org/004a2wv92","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210088259"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rachel I. Gafni","raw_affiliation_strings":["National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210088259"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070811893","display_name":"Leon J. Schurgers","orcid":"https://orcid.org/0000-0001-7867-6957","observed_orcids":["https://orcid.org/0000-0001-7867-6957"]},"institutions":[{"id":"https://openalex.org/I34352273","display_name":"Maastricht University","ror":"https://ror.org/02jz4aj89","country_code":"NL","type":"education","lineage":["https://openalex.org/I34352273"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Leon Schurgers","raw_affiliation_strings":["Department of Biochemistry, Cardiovascular Research Institute, University of Maastricht, Maastricht, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry, Cardiovascular Research Institute, University of Maastricht, Maastricht, The Netherlands","institution_ids":["https://openalex.org/I34352273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032533037","display_name":"Jouni Uitto","orcid":"https://orcid.org/0000-0003-4639-807X","observed_orcids":["https://orcid.org/0000-0003-4639-807X"]},"institutions":[{"id":"https://openalex.org/I149251103","display_name":"Thomas Jefferson University","ror":"https://ror.org/00ysqcn41","country_code":"US","type":"education","lineage":["https://openalex.org/I149251103"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jouni Uitto","raw_affiliation_strings":["Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I149251103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088244425","display_name":"Hakon H. Hakonarson","orcid":"https://orcid.org/0000-0003-2814-7461","observed_orcids":["https://orcid.org/0000-0003-2814-7461"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hakon Hakonarson","raw_affiliation_strings":["Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","Division of Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046025488","display_name":"Matthew A. Deardorff","orcid":"https://orcid.org/0000-0002-1542-1305","observed_orcids":["https://orcid.org/0000-0002-1542-1305"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew A. Deardorff","raw_affiliation_strings":["Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","Division of Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059498646","display_name":"Michael A. Levine","orcid":"https://orcid.org/0000-0003-0036-7809","observed_orcids":["https://orcid.org/0000-0003-0036-7809","https://orcid.org/0000-0001-5390-1556"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Michael A. Levine","raw_affiliation_strings":["Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: levinem@chop.edu","Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","Division of Endocrinology and Diabetes, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: levinem@chop.edu","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Division of Endocrinology and Diabetes, Children\u2019s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5059498646"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"],"apc_list":{"value":3800,"currency":"USD","value_usd":3800},"apc_paid":null,"fwci":5.9558,"has_fulltext":false,"cited_by_count":85,"citation_normalized_percentile":{"value":0.96676423,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"134","issue":"3","first_page":"658","last_page":"665"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12924","display_name":"Dermatological and Skeletal Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13453","display_name":"Alkaline Phosphatase Research Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/generalized-arterial-calcification-of-infancy","display_name":"generalized arterial calcification of infancy","score":0.9940000176429749},{"id":"https://openalex.org/keywords/abcc6-gene","display_name":"ABCC6 gene","score":0.9620000123977661},{"id":"https://openalex.org/keywords/pseudoxanthoma-elasticum","display_name":"pseudoxanthoma elasticum","score":0.9919999837875366},{"id":"https://openalex.org/keywords/enpp1","display_name":"ENPP1","score":0.8040000200271606},{"id":"https://openalex.org/keywords/homozygosity-mapping","display_name":"homozygosity mapping","score":0.8709999918937683},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.6890000104904175},{"id":"https://openalex.org/keywords/arterial-calcification","display_name":"arterial calcification","score":0.9049999713897705},{"id":"https://openalex.org/keywords/ectopic-mineralization","display_name":"ectopic mineralization","score":0.7609999775886536},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.43299999833106995}],"concepts":[{"id":"https://openalex.org/C2778028898","wikidata":"https://www.wikidata.org/wiki/Q1052391","display_name":"Pseudoxanthoma elasticum","level":2,"score":0.9882792234420776},{"id":"https://openalex.org/C2780309369","wikidata":"https://www.wikidata.org/wiki/Q933382","display_name":"Calcification","level":2,"score":0.6539392471313477},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5963002443313599},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5094195008277893},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3850964307785034},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3520771265029907},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.32852083444595337},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3150033950805664},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.22592690587043762}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001158","descriptor_name":"Arteries","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001158","descriptor_name":"Arteries","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011561","descriptor_name":"Pseudoxanthoma Elasticum","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011561","descriptor_name":"Pseudoxanthoma Elasticum","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D027425","descriptor_name":"ATP-Binding Cassette, Sub-Family C Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035781","descriptor_name":"Siblings","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061205","descriptor_name":"Vascular Calcification","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D061205","descriptor_name":"Vascular Calcification","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1038/jid.2013.370","doi":"https://doi.org/10.1038/jid.2013.370","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2013.370","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},{"id":"pmid:24008425","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24008425","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of investigative dermatology","raw_type":"Case Reports"},{"id":"pmh:oai:cris.maastrichtuniversity.nl:openaire/733277ff-676b-4bab-91fd-9bbcfa335115","doi":null,"is_oa":true,"landing_page_url":"https://cris.maastrichtuniversity.nl/en/publications/733277ff-676b-4bab-91fd-9bbcfa335115","pdf_url":null,"source":{"id":"https://openalex.org/S4306402616","display_name":"Research Publications (Maastricht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I34352273","host_organization_name":"Maastricht University","host_organization_lineage":["https://openalex.org/I34352273"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Li, Q, Brodsky, J L, Conlin, L K, Pawel, B, Glatz, A C, Gafni, R I, Schurgers, L, Uitto, J, Hakonarson, H, Deardorff, M A & Levine, M A 2014, 'Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum', Journal of Investigative Dermatology, vol. 134, no. 3, pp. 658-665. https://doi.org/10.1038/jid.2013.370","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3945730","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3945730","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"J Invest Dermatol","raw_type":"Text"},{"id":"pmh:um:oai:cris.maastrichtuniversity.nl:publications/733277ff-676b-4bab-91fd-9bbcfa335115","doi":null,"is_oa":true,"landing_page_url":"https://cris.maastrichtuniversity.nl/en/publications/733277ff-676b-4bab-91fd-9bbcfa335115","pdf_url":null,"source":{"id":"https://openalex.org/S4306402616","display_name":"Research Publications (Maastricht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I34352273","host_organization_name":"Maastricht University","host_organization_lineage":["https://openalex.org/I34352273"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Investigative Dermatology, 134(3), 658 - 665. Elsevier Science","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1038/jid.2013.370","doi":"https://doi.org/10.1038/jid.2013.370","is_oa":true,"landing_page_url":"https://doi.org/10.1038/jid.2013.370","pdf_url":null,"source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G3508122556","display_name":"The Cohesin Complex and Cornelia de Lange Syndrome","funder_award_id":"K08HD055488","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G3834738731","display_name":"The Role of GCM2 in Parathyroid Gland Homeostasis","funder_award_id":"R01DK079970","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G3851789993","display_name":"Biochemistry and Morphology of Connective Tissue","funder_award_id":"R01AR028450","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G8687680126","display_name":"Modifier Genes for Ectopic Mineralization","funder_award_id":"K01AR064766","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"}],"funders":[{"id":"https://openalex.org/F4320306673","display_name":"Dermatology Foundation","ror":"https://ror.org/04xy3z086"},{"id":"https://openalex.org/F4320313002","display_name":"Shriners Hospitals for Children","ror":"https://ror.org/03e8tm275"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"},{"id":"https://openalex.org/F4320338421","display_name":"NHLBI Division of Intramural Research","ror":"https://ror.org/023ny1p48"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W1588612423","https://openalex.org/W1893748347","https://openalex.org/W1965619867","https://openalex.org/W1974807791","https://openalex.org/W1982872284","https://openalex.org/W1984898235","https://openalex.org/W2001568974","https://openalex.org/W2004930292","https://openalex.org/W2014057352","https://openalex.org/W2023564748","https://openalex.org/W2036957292","https://openalex.org/W2037718729","https://openalex.org/W2039940750","https://openalex.org/W2041936389","https://openalex.org/W2043613746","https://openalex.org/W2046104930","https://openalex.org/W2047829280","https://openalex.org/W2050322944","https://openalex.org/W2054214883","https://openalex.org/W2060920739","https://openalex.org/W2061164361","https://openalex.org/W2061476769","https://openalex.org/W2064111379","https://openalex.org/W2070669725","https://openalex.org/W2071949994","https://openalex.org/W2077260227","https://openalex.org/W2078071514","https://openalex.org/W2084422700","https://openalex.org/W2086947866","https://openalex.org/W2090638904","https://openalex.org/W2094027090","https://openalex.org/W2102187103","https://openalex.org/W2108141317","https://openalex.org/W2115629484","https://openalex.org/W2122178465","https://openalex.org/W2124309684","https://openalex.org/W2131270867","https://openalex.org/W2139669438","https://openalex.org/W2168893192","https://openalex.org/W4230410214","https://openalex.org/W4244943029","https://openalex.org/W4300106735"],"related_works":["https://openalex.org/W7100077441","https://openalex.org/W2061164361","https://openalex.org/W4390459472","https://openalex.org/W2139669438","https://openalex.org/W2046104930","https://openalex.org/W2037735865","https://openalex.org/W2083348144","https://openalex.org/W1985406243","https://openalex.org/W3154967086","https://openalex.org/W4324116614"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":11},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":11},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":4}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}