Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.

Zhaoyu Pan Hongen XuBei ChenYongan TianLinlin ZhangSen ZhangDanhua LiuHuanfei LiuRuijun LiXinxin HuJingyuan GuanWenxue TangWei Lu

Published in: Molecular genetics & genomic medicine (2020)

Our results expand the variant spectrum of TCOF1 and highlight that NGS is essential for the diagnosis of TCS and that genetic counseling is beneficial for guiding prevention.

Keyphrases

cross sectional
genome wide
copy number
gene expression
dna methylation
hepatitis c virus
hiv infected
antiretroviral therapy