Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Chuan ZhangLisha AnHuiqin XueShengju HaoYousheng YanQinghua ZhangXiaohua JinQian LiBingbo ZhouXuan FengPanpan MaXing WangXue ChenCuixia ChenZongfu CaoXu Ma

Published in: Journal of clinical laboratory analysis (2020)

We identified five novel variants in TCOF1 in Chinese patients with TCS, which expands the mutation spectrum of TCOF1 in TCS. Bone conduction hearing rehabilitation can improve hearing for TCS patients and prenatal diagnosis can provide fertility guidance for TCS families.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
copy number
gene expression
dna methylation
genome wide
transcription factor