Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.

Cheng-Wei Yang Bin YinJia-Yu ShiBing ShiZhong-Lin Jia

Published in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2023)

This discovery of the novel variation ( IRF6 p. Glu404Gly) expands the spectrum of known variations in VWS in Chinese humans. Genetic results combined with clinical phenotypes and differential diagnosis points from other diseases can make a definitive diagnosis and provide genetic counseling for families.

Keyphrases

genome wide
copy number
dendritic cells
small molecule
dna methylation
high throughput
smoking cessation
case report
squamous cell carcinoma
immune response
locally advanced
transcription factor
single cell
genome wide identification
human immunodeficiency virus