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Article

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).

European journal of human genetics : EJHG - 1 Jan 2025

Ranji Peyman, Pairet Eleonore, Helaers Raphael, Bayet Bénédicte, Gerdom Alexander, Gil-da-Silva-Lopes Vera Lúcia, Revencu Nicole, Vikkula Miikka

Abstract excerpt

The pathophysiological basis of non-syndromic orofacial cleft (NsOFC) is still largely unclear. However, exome sequencing (ES) has led to identify several causative genes, often with reduced penetrance. Among these, the Rho GTPase activating protein 29 (ARHGAP29) has been previously implicated in 7 families with NsOFC. We investigated a cohort of 224 NsOFCs for which no genetic pathogenic variant had been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39506048
DOI: 10.1038/s41431-024-01727-3
PMCID: PMC11711499

Genes

ARHGAP29

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).PMID 39506048Read ↗

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