[Analysis of pathogenic gene variant in two children with Treacher-Collins syndrome].

Jie Wang,Xiaoping Ji, Lichun Zhang,Ruiting Xu, Yan Huang,Yaxian Liu,Liqiong Wu,Jin An,Zhiyuan Guo,Xiaohua Wang

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）

Cited 0|Views6

No score

Abstract

The identified variants in the TCOF1 gene probably underlie the two cases of TCS. There was no apparent correlation between genotype and phenotype. In addition, it shows a high interfamilial variability ranging from normal to full presentation of TCS. Genetic detection provided clinical diagnosis and genetic counselling for TCS patients.

Translated text

Key words

SSR4 gene,De novo variant,Frameshift variant,Congenital disorder of glycosylation type 1y,Dysplasia of external auditory canal

AI Read Science

Must-Reading Tree

Example

Generate MRT to find the research sequence of this paper

Chat Paper

Summary is being generated by the instructions you defined