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Article

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

American journal of medical genetics. Part A - 1 Sept 2015

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

Abstract excerpt

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...

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PMID: 25929198
DOI: 10.1002/ajmg.a.37130

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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