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Article

Wiedemann-Steiner syndrome in two patients from Portugal.

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

Grangeia Ana, Leão Miguel, Moura Carla P

Abstract excerpt

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel...

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Identifiers

PMID: 31710778
DOI: 10.1002/ajmg.a.61407

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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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