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Article

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

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

Assoum Mirna, Bruel Ange-Line, Crenshaw Melissa L, Delanne Julian, Wentzensen Ingrid M, McWalter Kirsty, Dent Karin M, Vitobello Antonio, Kuentz Paul, Thevenon Julien, Duffourd Yannis, Thauvin-Robinet Christel, Faivre Laurence

Abstract excerpt

In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. Since then, no other cases of KIAA1033 variants have been reported. Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous KIAA1033 variants...

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PMID: 31953988
DOI: 10.1002/ajmg.a.61487

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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