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Article

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

Journal of child neurology - 1 Feb 2017

Min Ko Jung, Cho Jae So, Yoo Yongjin, Seo Jieun, Choi Murim, Chae Jong-Hee, Lee Hye-Ran, Cho Tae-Joon

Abstract excerpt

Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been...

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PMID: 27777327
DOI: 10.1177/0883073816674095

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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