Article
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
Journal of clinical laboratory analysis - 1 Jan 2021
Zhang Chuan, An Lisha, Xue Huiqin, Hao Shengju, Yan Yousheng, Zhang Qinghua, Jin Xiaohua, Li Qian, Zhou Bingbo, Feng Xuan, Ma Panpan, Wang Xing, Chen Xue, Chen Cuixia, Cao Zongfu, Ma Xu
Abstract excerpt
BACKGROUND: Treacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients. METHOD: We recruited seven TCS families. Variant screening in probands was performed by targeted next-generation sequencing (NGS)....
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