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Article

Identification of rare loss-of-function variants in FAM3B associated with non-syndromic orofacial clefts.

Genomics - 1 May 2023

Zhao Huaxiang, He Qing, Wu Xiantao, Liang Xuqin, Jiao Yuhua, Zhang Yue, Bao Shanying, Xu Linping, Hou Yuxia, Zhu Xuechen, Ding Yi

Abstract excerpt

Orofacial clefts (OFCs) are the most common congenital craniofacial disorders and cause serious problems with the appearance, orofacial function and mental health of the patients. The fibroblast growth factor (FGF) signaling pathway is critical for several aspects of craniofacial development and loss-of-function mutations of coding genes for multiple FGFs and FGFRs can lead to OFCs. We recently characterized...

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Identifiers

PMID: 37105387
DOI: 10.1016/j.ygeno.2023.110630

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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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