{"id":"https://openalex.org/W2040174909","doi":"https://doi.org/10.1002/ajmg.a.36487","title":"Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5\u2010year\u2010old boy\u2014Report of the second family with B3GAT3 mutation and expansion of the phenotype","display_name":"Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5\u2010year\u2010old boy\u2014Report of the second family with B3GAT3 mutation and expansion of the phenotype","publication_year":2014,"publication_date":"2014-03-25","ids":{"openalex":"https://openalex.org/W2040174909","doi":"https://doi.org/10.1002/ajmg.a.36487","mag":"2040174909","pmid":"https://pubmed.ncbi.nlm.nih.gov/24668659","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4384644"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.36487","doi":"https://doi.org/10.1002/ajmg.a.36487","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.36487","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4384644","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076813724","display_name":"Julia Elisabeth Von Oettingen","orcid":"https://orcid.org/0000-0003-0631-1435","observed_orcids":["https://orcid.org/0000-0003-0631-1435"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Julia E. von Oettingen","raw_affiliation_strings":["Division of Endocrinology; Boston Children's Hospital; Boston Massachusetts"],"raw_orcid":"https://orcid.org/0000-0003-0631-1435","affiliations":[{"raw_affiliation_string":"Division of Endocrinology; Boston Children's Hospital; Boston Massachusetts","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055629414","display_name":"Wen\u2010Hann Tan","orcid":"https://orcid.org/0000-0002-1593-6149","observed_orcids":["https://orcid.org/0000-0002-1593-6149"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wen\u2010Hann Tan","raw_affiliation_strings":["Division of Genetics; Boston Children's Hospital; Boston; Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genetics; Boston Children's Hospital; Boston; Massachusetts","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5039731517","display_name":"Andrew Nahum Dauber","orcid":"https://orcid.org/0000-0003-4890-0262","observed_orcids":["https://orcid.org/0000-0003-4890-0262"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew Dauber","raw_affiliation_strings":["Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts","Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts","institution_ids":["https://openalex.org/I1288882113"]},{"raw_affiliation_string":"Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts","institution_ids":["https://openalex.org/I107606265"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5076813724"],"corresponding_institution_ids":["https://openalex.org/I1288882113"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":2.3253,"has_fulltext":false,"cited_by_count":40,"citation_normalized_percentile":{"value":0.86565381,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"164","issue":"6","first_page":"1580","last_page":"1586"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11131","display_name":"Proteoglycans and glycosaminoglycans research","score":0.9477999806404114,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11131","display_name":"Proteoglycans and glycosaminoglycans research","score":0.9477999806404114,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11310","display_name":"Connective tissue disorders research","score":0.04520000144839287,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.002199999988079071,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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/proteoglycan-synthesis","display_name":"proteoglycan synthesis","score":0.8740000128746033},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.843999981880188},{"id":"https://openalex.org/keywords/global-developmental-delay","display_name":"global developmental delay","score":0.9829999804496765},{"id":"https://openalex.org/keywords/multiple-congenital-anomalies","display_name":"multiple congenital anomalies","score":0.9589999914169312},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.6930000185966492},{"id":"https://openalex.org/keywords/facial-dysmorphism","display_name":"facial dysmorphism","score":0.8289999961853027},{"id":"https://openalex.org/keywords/joint-laxity","display_name":"joint laxity","score":0.8629999756813049},{"id":"https://openalex.org/keywords/cardiac-involvement","display_name":"cardiac involvement","score":0.7160000205039978},{"id":"https://openalex.org/keywords/pectus-carinatum","display_name":"pectus carinatum","score":0.9300000071525574},{"id":"https://openalex.org/keywords/skin-abnormalities","display_name":"skin abnormalities","score":0.7480000257492065},{"id":"https://openalex.org/keywords/inguinal-hernia","display_name":"inguinal hernia","score":0.859000027179718},{"id":"https://openalex.org/keywords/atlantoaxial-instability","display_name":"atlantoaxial instability","score":0.9869999885559082},{"id":"https://openalex.org/keywords/refractive-error","display_name":"refractive error","score":0.6819999814033508},{"id":"https://openalex.org/keywords/dental-defects","display_name":"dental defects","score":0.902999997138977},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8389999866485596}],"concepts":[{"id":"https://openalex.org/C2778489925","wikidata":"https://www.wikidata.org/wiki/Q164218","display_name":"Pectus carinatum","level":3,"score":0.6855052709579468},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.6409997940063477},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5915679335594177},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5591757893562317},{"id":"https://openalex.org/C2778333328","wikidata":"https://www.wikidata.org/wiki/Q1141499","display_name":"Ehlers\u2013Danlos syndrome","level":2,"score":0.5450064539909363},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5344141721725464},{"id":"https://openalex.org/C189165786","wikidata":"https://www.wikidata.org/wiki/Q193825","display_name":"Extracellular matrix","level":2,"score":0.5096449851989746},{"id":"https://openalex.org/C2910325231","wikidata":"https://www.wikidata.org/wiki/Q1779300","display_name":"Connective Tissue Disorder","level":2,"score":0.4715162515640259},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.47024765610694885},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4388584792613983},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3559722900390625},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3267762362957001},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2361401617527008},{"id":"https://openalex.org/C2776193999","wikidata":"https://www.wikidata.org/wiki/Q431168","display_name":"Pectus excavatum","level":2,"score":0.15680959820747375},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.1430465281009674}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D001848","descriptor_name":"Bone Diseases, Developmental","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005700","descriptor_name":"Galactosyltransferases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009139","descriptor_name":"Musculoskeletal Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011509","descriptor_name":"Proteoglycans","qualifier_ui":"Q000096","qualifier_name":"biosynthesis","is_major_topic":false},{"descriptor_ui":"D014453","descriptor_name":"Glucuronosyltransferase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014479","descriptor_name":"United Arab Emirates","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/ajmg.a.36487","doi":"https://doi.org/10.1002/ajmg.a.36487","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.36487","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:24668659","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24668659","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":"American journal of medical genetics. Part A","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:4384644","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4384644","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":"Am J Med Genet A","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:4384644","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4384644","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":"Am J Med Genet A","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.550000011920929,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G3447108572","display_name":"Harvard Clinical and Translational Science Center (UL1)","funder_award_id":"UL1RR025758","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G4933014928","display_name":"Rare Genetic Variants as Novel Causes of Idopathic or Syndromic Short Stature","funder_award_id":"K23HD073351","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320309622","display_name":"Harvard University","ror":"https://ror.org/03vek6s52"},{"id":"https://openalex.org/F4320309673","display_name":"Harvard Catalyst","ror":null},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W166716915","https://openalex.org/W1941585788","https://openalex.org/W1965214377","https://openalex.org/W1971249148","https://openalex.org/W1996795546","https://openalex.org/W2000460436","https://openalex.org/W2005681990","https://openalex.org/W2011874828","https://openalex.org/W2053850439","https://openalex.org/W2069824197","https://openalex.org/W2099970203","https://openalex.org/W2100230804","https://openalex.org/W2104984801","https://openalex.org/W2107983150","https://openalex.org/W2111787323","https://openalex.org/W2156014566","https://openalex.org/W2169829977"],"related_works":["https://openalex.org/W2952787851","https://openalex.org/W1489300941","https://openalex.org/W3199649188","https://openalex.org/W1969968068","https://openalex.org/W2969478685","https://openalex.org/W4299421738","https://openalex.org/W2805720783","https://openalex.org/W2553465328","https://openalex.org/W4211153794","https://openalex.org/W2053850439"],"abstract_inverted_index":{"As":[0],"a":[1,76,79,83,136,183,188],"major":[2],"component":[3],"of":[4,13,28,53,60,100,104,191,195],"the":[5,10,39,47,51,54,58,61,89,96,192,196],"extracellular":[6],"matrix,":[7],"proteoglycans":[8],"influence":[9],"mechanical":[11],"properties":[12],"connective":[14],"tissue":[15],"and":[16,23,42,64,103,119,143,158,165,187,204],"play":[17],"an":[18],"important":[19],"role":[20],"in":[21,46,50,88,106,156,201],"cell-cell":[22],"cell-matrix":[24],"interactions.":[25],"Genetic":[26],"defects":[27],"proteoglycan":[29,62],"biosynthesis":[30,52],"lead":[31],"to":[32,123],"multi-system":[33],"disorders,":[34],"often":[35],"most":[36],"prominently":[37],"affecting":[38],"skeletal":[40,115],"system":[41],"skin.":[43],"Specific":[44],"deficiencies":[45],"enzymes":[48],"involved":[49],"linkage":[55],"region":[56],"between":[57],"core":[59],"protein":[63],"its":[65],"glycosaminoglycan":[66],"side":[67],"chains":[68],"are":[69],"known":[70],"as":[71,167,169],"linkeropathies.":[72],"We":[73,181],"report":[74,186],"on":[75],"patient":[77,109],"from":[78],"second":[80],"family":[81],"with":[82,127,151,178],"homozygous":[84],"c.830G>A":[85],"(p.Arg277Gln)":[86],"mutation":[87],"B3GAT3":[90,101,128,179],"gene.":[91],"The":[92],"clinical":[93,185],"features":[94,194],"expand":[95],"previously":[97,125,176],"reported":[98],"phenotype":[99],"mutations":[102,155,200],"linkeropathies":[105,152,197],"general.":[107],"This":[108],"has":[110,133,161],"short":[111],"stature,":[112],"facial":[113],"dysmorphisms,":[114],"findings,":[116],"joint":[117],"laxity,":[118],"cardiac":[120],"manifestations":[121],"similar":[122],"those":[124],"associated":[126,150,177],"mutations.":[129,180],"However,":[130],"he":[131],"also":[132],"developmental":[134],"delay,":[135],"refractive":[137],"errors,":[138],"dental":[139],"defects,":[140],"pectus":[141],"carinatum,":[142],"skin":[144],"abnormalities":[145],"that":[146,172],"have":[147,173],"only":[148],"been":[149,175],"caused":[153,198],"by":[154,199],"B4GALT6":[157],"B4GALT7.":[159,205],"He":[160],"bilateral":[162],"inguinal":[163],"hernias":[164],"atlanto-axial":[166],"well":[168],"atlanto-occipital":[170],"instability":[171],"not":[174],"provide":[182],"detailed":[184],"comparative":[189],"overview":[190],"phenotypic":[193],"B3GAT3,":[202],"B4GALT6,":[203]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}