{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T01:24:33Z","timestamp":1778203473404,"version":"3.51.4"},"reference-count":19,"publisher":"Necmettin Erbakan University Press","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wiedemann\u2013Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the KMT2A gene. Here, we report a child with WSS presented with neurodevelopmental delay. Genetic analysis revealed a heterozygous c.2312dupC (p.Ser774Valfs*11) variant at the KMT2A gene that was classified as pathogenic in dbSNP (rs1057518649). To the best of our knowledge, this is the first patient of WSS from Turkey. This case draws attention to the diagnosis of WSS in children with neurodevelopmental delay.<\/jats:p>","DOI":"10.1055\/s-0040-1716709","type":"journal-article","created":{"date-parts":[[2020,9,23]],"date-time":"2020-09-23T21:53:42Z","timestamp":1600898022000},"page":"162-164","source":"Crossref","is-referenced-by-count":4,"title":["Wiedemann\u2013Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features"],"prefix":"10.53391","volume":"11","author":[{"given":"Kursat Bora","family":"Carman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emre","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cefa Nil","family":"Aslan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinem","family":"Kocagil","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oguz","family":"Cilinigr","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coskun","family":"Yarar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,9,23]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ajhg.2012.06.008","article-title":"De novo mutations in MLL cause Wiedemann-Steiner syndrome","volume":"91","author":"W D Jones","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1111\/cge.12586","article-title":"Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations","volume":"89","author":"N Miyake","year":"2016","journal-title":"Clin Genet"},{"issue":"05","key":"ref3","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1002\/ajmg.a.61534","article-title":"Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: first patient from India","volume":"182","author":"V Arora","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1002\/ajmg.a.61407","article-title":"Wiedemann-Steiner syndrome in two patients from Portugal","volume":"182","author":"A Grangeia","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"05","key":"ref5","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"H Li","year":"2010","journal-title":"Bioinformatics"},{"issue":"16","key":"ref6","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"K Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"11.10.1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"G A Van der Auwera","year":"2013","journal-title":"Curr Protoc Bioinformatics"},{"key":"ref8","volume-title":"A syndrome of abnormal facies, short stature, and psychomotor retardation. 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