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Article

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype.

Journal of human genetics - 1 Jun 2026

Abdel-Hamid Mohamed S, Abdel-Salam Ghada M H

Abstract excerpt

Biallelic variants in FRA10AC1, encoding a component of the spliceosomal C complex that is crucial for functional mRNA processing, have been recently associated with a neurodevelopmental disorder characterized by developmental delay, variable dysmorphic facies, growth retardation, and corpus callosum abnormalities. Skeletal and congenital heart defects were observed in some patients. To date, only 10 patients...

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Identifiers

PMID: 41571908
DOI: 10.1038/s10038-025-01447-6
PMCID: PMC13199054

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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