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Article

Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population.

BMC medical genetics - 15 Aug 2016

Peng Hsiu-Huei, Chang Nai-Chung, Chen Kuo-Ting, Lu Jang-Jih, Chang Pi-Yueh, Chang Shih-Cheng, Wu-Chou Yah-Huei, Chou Yi-Ting, Phang Wanni, Cheng Po-Jen

Abstract excerpt

BACKGROUND: Nonsyndromic orofacial cleft is a common birth defect with a complex etiology, including multiple genetic and environmental risk factors. Recent whole genome analyses suggested associations between nonsyndromic orofacial cleft and up to 18 genetic risk loci (ABCA4, BMP4, CRISPLD2, GSTT1, FGF8, FGFR2, FOXE1, IRF6, MAFB, MSX1, MTHFR, MYH9, PDGFC, PVRL1, SUMO1, TGFA, TGFB3, and VAX1), each of which...

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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: 27527345
DOI: 10.1186/s12881-016-0322-2
PMCID: PMC4986225

Genes

ABCA4
MYH9
CRISPLD2
FGF8
FGFR2
FOXE1
MTHFR
VAX1
BMP4
GSTT1
MAFB
MSX1
PDGFC
SUMO1
TGFA
TGFB3

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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