[Analysis of pathogenic gene variant in two children with Treacher-Collins syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2022)
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.
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Key words
SSR4 gene,De novo variant,Frameshift variant,Congenital disorder of glycosylation type 1y,Dysplasia of external auditory canal
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