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Article

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

European journal of medical genetics - 1 Jul 2013

Isrie Mala, Kalscheuer Vera M, Holvoet Maureen, Fieremans Nathalie, Van Esch Hilde, Devriendt Koenraad

Abstract excerpt

The advent of next-generation sequencing has proven to be a key force in the identification of new genes associated with intellectual disability. In this study, high-throughput sequencing of the coding regions of the X-chromosome led to the identification of a missense variant in the HUWE1 gene. The same variant has been reported before by Froyen et al. (2008). We compare the phenotypes and demonstrate that, in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Upper Extremity Deformities, Congenital

Source

Identifiers

PMID: 23721686
DOI: 10.1016/j.ejmg.2013.05.005

Genes

HUWE1

Provenance

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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