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Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report.

Annals of agricultural and environmental medicine : AAEM - 28 Sept 2023

Ręka Gabriela, Wojciechowska Katarzyna, Lejman Monika

Abstract excerpt

INTRODUCTION: Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability. CASE REPORT: A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed...

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PMID: 37772538
DOI: 10.26444/aaem/163063

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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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