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2. Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. Enokizono T; Ohto T; Tanaka R; Tanaka M; Suzuki H; Sakai A; Imagawa K; Fukushima H; Iwabuti A; Fukushima T; Sumazaki R; Uehara T; Takenouchi T; Kosaki K Am J Med Genet A; 2017 Oct; 173(10):2821-2825. PubMed ID: 28815892 [TBL] [Abstract][Full Text] [Related]
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6. A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. Dunkerton S; Field M; Cho V; Bertram E; Whittle B; Groves A; Goel H Am J Med Genet A; 2015 Sep; 167A(9):2182-7. PubMed ID: 25929198 [TBL] [Abstract][Full Text] [Related]
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8. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. Strom SP; Lozano R; Lee H; Dorrani N; Mann J; O'Lague PF; Mans N; Deignan JL; Vilain E; Nelson SF; Grody WW; Quintero-Rivera F BMC Med Genet; 2014 May; 15():49. PubMed ID: 24886118 [TBL] [Abstract][Full Text] [Related]
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11. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. Aggarwal A; Rodriguez-Buritica DF; Northrup H Eur J Med Genet; 2017 Jun; 60(6):285-288. PubMed ID: 28359930 [TBL] [Abstract][Full Text] [Related]
12. Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Mendelsohn BA; Pronold M; Long R; Smaoui N; Slavotinek AM Am J Med Genet A; 2014 Aug; 164A(8):2079-83. PubMed ID: 24818805 [TBL] [Abstract][Full Text] [Related]
13. Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. Sun Y; Hu G; Liu H; Zhang X; Huang Z; Yan H; Wang L; Fan Y; Gu X; Yu Y Am J Med Genet A; 2017 Feb; 173(2):510-514. PubMed ID: 27759909 [TBL] [Abstract][Full Text] [Related]
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