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Article

Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia.

Nature communications - 8 Feb 2016

Zhang Yong-Biao, Hu Jintian, Zhang Jiao, Zhou Xu, Li Xin, Gu Chaohao, Liu Tun, Xie Yangchun, Liu Jiqiang, Gu Mingliang, Wang Panpan, Wu Tingting, Qian Jin, Wang Yue, Dong Xiaoqun, Yu Jun, Zhang Qingguo

Abstract excerpt

Craniofacial microsomia (CFM) is a rare congenital anomaly that involves immature derivatives from the first and second pharyngeal arches. The genetic pathogenesis of CFM is still unclear. Here we interrogate 0.9 million genetic variants in 939 CFM cases and 2,012 controls from China. After genotyping of an additional 443 cases and 1,669 controls, we identify 8 significantly associated loci with the most...

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Source

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Identifiers

PMID: 26853712
DOI: 10.1038/ncomms10605
PMCID: PMC4748111

Genes

EDNRB
EPAS1
FGF3
GATA3
GBX2
KLF12
NRP2
PLCD3
ROBO1
SHROOM3

Provenance

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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