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Article

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

European journal of medical genetics - 1 Jun 2017

Aggarwal Anjali, Rodriguez-Buritica David F, Northrup Hope

Abstract excerpt

Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Whole Exome Sequencing and supported by some characteristic clinical features. Genotype and...

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Identifiers

PMID: 28359930
DOI: 10.1016/j.ejmg.2017.03.006

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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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