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Article

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

European journal of medical genetics - 1 Feb 2014

Rao Anupam, O'Donnell Sheridan, Bain Nicole, Meldrum Cliff, Shorter Damon, Goel Himanshu

Abstract excerpt

BACKGROUND: Chromosome 1p31 deletion (OMIM #613735) involving the NFIA gene (OMIM 600727) is characterised by variable defects in the formation of the corpus callosum, craniofacial abnormalities and urinary tract defects. A review of current literature suggests only seven cases have been reported, none of which had an isolated NFIA gene defect. METHODS: We submit the clinical and molecular features of an...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24462883
DOI: 10.1016/j.ejmg.2013.12.011

Genes

NFIA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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