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Article

Rare variants in FAT3 as possible contributors to non-syndromic orofacial cleft risk.

Human genomics - 3 Apr 2026

Kong Qianying, Qi Chunhui, Zhao Qian, Peng Huifang, Dong Yanying, Jiang Hongwei, Zhu Xuechen

Abstract excerpt

Non-syndromic orofacial clefts (NSOFCs) represent the most common human craniofacial malformations, yet the majority of their genetic causes remain unclear. This study, by analyzing whole-exome sequencing (WES) data from multiple patients with NSOFCs, identified eight de novo low-frequency missense variants in the FAT3 gene, all of which were located within the extracellular cadherin domains of the FAT3 protein....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41933378
DOI: 10.1186/s40246-026-00956-5
PMCID: PMC13173973

Genes

FAT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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