[Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene].

Qinghua Zhang,Chuan Zhang,Yupei Wang,Weikai Wang, Ruifeng Xu,Ling Hui,Xuan Feng,Xing Wang, Lei Zheng,Binbo Zhou, Yan Jiang,Shengju Hao

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2023）

引用 0|浏览0

暂无评分

摘要

Considering her clinical phenotype and result of genetic testing, the child was diagnosed with TYRSN1 (acute type). The compound heterozygous variants of the FAH gene probably underlay the disease in this child. Above finding has further expanded the spectrum of FAH gene variants, and provided a basis for accurate treatment, genetic counseling and prenatal diagnosis for her family.

查看译文

关键词

tyrosinemia type,fah genetic,genetic analysis,clinical features

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要