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Article

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

American journal of medical genetics. Part A - 1 Sept 2016

Stellacci Emilia, Onesimo Roberta, Bruselles Alessandro, Pizzi Simone, Battaglia Domenica, Leoni Chiara, Zampino Giuseppe, Tartaglia Marco

Abstract excerpt

Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. Since the original reports by Wiedemann and co-workers, and Steiner and Marques, only a few cases have been described. Recently, the clinical variability of the disorder has more precisely been characterized by Jones and...

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Identifiers

PMID: 27320412
DOI: 10.1002/ajmg.a.37681

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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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