A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.

Bin YinYu-Ya PangJia-Yu ShiYan-Song Lin Jia-Lin SunQian ZhengBing ShiZhong-Lin Jia

Published in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2022)

This research found a novel variant of TCS in Chinese, expanding the spectrum of TCS pathogenic variants. Genetic results combined with clinical phenotype can make a definite diagnosis and provide genetic counseling for the family.

Keyphrases

copy number
genome wide
smoking cessation
autism spectrum disorder
human immunodeficiency virus
transcription factor
hiv infected
antiretroviral therapy