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A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner Syndrome

Dunkerton, Sophie; Field, Matthew; Cho, Eun; Bertram, Edward; Whittle, Belinda; Groves, Alexandra; Goel, Himanshu

Description

Growth deficiency, psychomotor delay, and facial dysmorphism was originally described in a male patient in 1989 by Wiedemann et al. and later in 2000 by Steiner et al. Wiedemann-Steiner syndrome (WSS) has since been described only a few times in the literature, with the phenotypic spectrum both expanding and becoming more delineated with each patient reported. We report on the clinical and molecular features of monozygotic twins with a de novo mutation in KMT2A. Single nucleotide polymorphism...[Show more]

CollectionsANU Research Publications
Date published: 2015
Type: Journal article
URI: http://hdl.handle.net/1885/98400
Source: American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.37130

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