{"id":"https://openalex.org/W2089235682","doi":"https://doi.org/10.1016/0002-9343(66)90108-2","title":"Pycnodysostosis, with a familial chromosome anomaly","display_name":"Pycnodysostosis, with a familial chromosome anomaly","publication_year":1966,"publication_date":"1966-02-01","ids":{"openalex":"https://openalex.org/W2089235682","doi":"https://doi.org/10.1016/0002-9343(66)90108-2","mag":"2089235682","pmid":"https://pubmed.ncbi.nlm.nih.gov/5902268"},"language":"en","primary_location":{"id":"doi:10.1016/0002-9343(66)90108-2","doi":"https://doi.org/10.1016/0002-9343(66)90108-2","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0002-9343(66)90108-2","pdf_url":null,"source":{"id":"https://openalex.org/S186920367","display_name":"The American Journal of Medicine","issn_l":"0002-9343","issn":["0002-9343","1555-7162"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","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":"The American Journal of Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5059673548","display_name":"Stanley M. Elmore","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stanley M. Elmore","raw_affiliation_strings":["Nashville, Tennessee USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nashville, Tennessee USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111927320","display_name":"Walter E. Nance","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Walter E. Nance","raw_affiliation_strings":["Nashville, Tennessee USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nashville, Tennessee USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045310496","display_name":"Barbara J. McGee","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Barbara J. McGee","raw_affiliation_strings":["Nashville, Tennessee USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nashville, Tennessee USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041506440","display_name":"Mireille Engel-de Montmollin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mireille Engel-de Montmollin","raw_affiliation_strings":["Nashville, Tennessee USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nashville, Tennessee USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109742453","display_name":"Eric Engel","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eric Engel","raw_affiliation_strings":["Nashville, Tennessee USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nashville, Tennessee USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3770,"currency":"USD","value_usd":3770},"apc_paid":null,"fwci":3.2889,"has_fulltext":false,"cited_by_count":52,"citation_normalized_percentile":{"value":0.92408971,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"40","issue":"2","first_page":"273","last_page":"282"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11219","display_name":"Bone Metabolism and Diseases","score":0.4643999934196472,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11219","display_name":"Bone Metabolism and Diseases","score":0.4643999934196472,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.13750000298023224,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.07050000131130219,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/pycnodysostosis","display_name":"pycnodysostosis","score":1.0},{"id":"https://openalex.org/keywords/chromosome-22q-deletion","display_name":"chromosome 22q deletion","score":0.6700000166893005},{"id":"https://openalex.org/keywords/acrocentric-chromosomes","display_name":"acrocentric chromosomes","score":0.8859999775886536},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.6439999938011169},{"id":"https://openalex.org/keywords/craniosynostosis","display_name":"craniosynostosis","score":0.8849999904632568},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.7749999761581421},{"id":"https://openalex.org/keywords/bone-mineral-density","display_name":"bone mineral density","score":0.4099999964237213},{"id":"https://openalex.org/keywords/multiple-fractures","display_name":"multiple fractures","score":0.7870000004768372},{"id":"https://openalex.org/keywords/recessive-inheritance","display_name":"recessive inheritance","score":0.6790000200271606}],"concepts":[{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.7477364540100098},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6546189785003662},{"id":"https://openalex.org/C2778368355","wikidata":"https://www.wikidata.org/wiki/Q5488","display_name":"Aplasia","level":2,"score":0.5930556058883667},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5276100635528564},{"id":"https://openalex.org/C2779300802","wikidata":"https://www.wikidata.org/wiki/Q13147","display_name":"Skull","level":2,"score":0.49841761589050293},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.4780878722667694},{"id":"https://openalex.org/C2780327212","wikidata":"https://www.wikidata.org/wiki/Q1568160","display_name":"Hypoplasia","level":2,"score":0.4703175127506256},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.46346795558929443},{"id":"https://openalex.org/C2910508087","wikidata":"https://www.wikidata.org/wiki/Q4941552","display_name":"Skeletal disorder","level":3,"score":0.45130738615989685},{"id":"https://openalex.org/C191791410","wikidata":"https://www.wikidata.org/wiki/Q241953","display_name":"OMIM : Online Mendelian Inheritance in Man","level":4,"score":0.4416502118110657},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.4337160587310791},{"id":"https://openalex.org/C2776260777","wikidata":"https://www.wikidata.org/wiki/Q3251367","display_name":"Osteochondrodysplasia","level":2,"score":0.4262261986732483},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3035741448402405},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.23117715120315552},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2207736074924469},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.21502283215522766},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.11181584000587463},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.09109240770339966},{"id":"https://openalex.org/C2776541429","wikidata":"https://www.wikidata.org/wiki/Q165328","display_name":"Osteoporosis","level":2,"score":0.08340531587600708}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002973","descriptor_name":"Cleidocranial Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002973","descriptor_name":"Cleidocranial Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002973","descriptor_name":"Cleidocranial Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D005260","descriptor_name":"Female","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":"D006801","descriptor_name":"Humans","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":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/0002-9343(66)90108-2","doi":"https://doi.org/10.1016/0002-9343(66)90108-2","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0002-9343(66)90108-2","pdf_url":null,"source":{"id":"https://openalex.org/S186920367","display_name":"The American Journal of Medicine","issn_l":"0002-9343","issn":["0002-9343","1555-7162"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","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":"The American Journal of Medicine","raw_type":"journal-article"},{"id":"pmid:5902268","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/5902268","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 American journal of medicine","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W627029004","https://openalex.org/W1577035998","https://openalex.org/W1606165270","https://openalex.org/W1983456191","https://openalex.org/W1987825259","https://openalex.org/W1994971726","https://openalex.org/W2005540780","https://openalex.org/W2050361501","https://openalex.org/W2060228797","https://openalex.org/W2062745331","https://openalex.org/W2070047890","https://openalex.org/W2114390910","https://openalex.org/W2155766569","https://openalex.org/W2158413719","https://openalex.org/W2275311108","https://openalex.org/W2314433817","https://openalex.org/W2411658065","https://openalex.org/W2467376549","https://openalex.org/W4212851224"],"related_works":["https://openalex.org/W2332894393","https://openalex.org/W4245067554","https://openalex.org/W2086823297","https://openalex.org/W7220290114","https://openalex.org/W3026327929","https://openalex.org/W2197883887","https://openalex.org/W1974849772","https://openalex.org/W7221082750","https://openalex.org/W2896705476","https://openalex.org/W3118876629"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-06-24T00:00:00"}
