{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T17:35:34Z","timestamp":1787679334821,"version":"build-2784847793"},"reference-count":46,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["TL1TR001880"],"award-info":[{"award-number":["TL1TR001880"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K08HD086250"],"award-info":[{"award-number":["K08HD086250"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006792","name":"Hartwell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006792","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Wiedemann\u2010Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in\n                    <jats:italic>KMT2A<\/jats:italic>\n                    and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype\u2013phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians\n                    <jats:bold>'<\/jats:bold>\n                    differential diagnoses. Sixty\u2010nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20\u2009months and 18\u2009months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non\u2010LoF variants. This study identifies genotype\u2013phenotype correlations as well as race\u2010facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long\u2010term outcomes in individuals with WSS.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62124","type":"journal-article","created":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T11:16:26Z","timestamp":1617102986000},"page":"1649-1665","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann\u2010Steiner syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3480-8123","authenticated-orcid":false,"given":"Sarah E.","family":"Sheppard","sequence":"first","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3749-2884","authenticated-orcid":false,"given":"Ian M.","family":"Campbell","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret H.","family":"Harr","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0867-722X","authenticated-orcid":false,"given":"Nina","family":"Gold","sequence":"additional","affiliation":[{"name":"Mass General Hospital for Children Division of Medical Genetics and Metabolism and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans T.","family":"Bjornsson","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Faculty of Medicine University of Iceland  Reykjavik Iceland"},{"name":"Landspitali University Hospital  Iceland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie S.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics and Hugo W. Moser Research Institute Kennedy Krieger Institute  Baltimore Maryland USA"},{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Fahrner","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Department of Pediatrics Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Fatemi","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics and Hugo W. 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