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Article

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.

American journal of medical genetics. Part A - 1 May 2020

Arora Veronica, Puri Ratna D, Bijarnia-Mahay Sunita, Verma Ishwar C

Abstract excerpt

Wiedemann-Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base...

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PMID: 32128942
DOI: 10.1002/ajmg.a.61534

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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