[Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene].

Xiaoli Fu,Li Zhang,Xuxia Wei,Yuqiang Lyu,Lu Yang,Min Gao,Zhongtao Gai,Yi Liu

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

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摘要

The child was diagnosed with Johanson-Blizzard syndrome due to the compound heterozygous variants of the UBR1 gene. Above finding has enriched the mutational spectrum of the UBR1 gene and provided a basis for genetic counseling for this family.

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关键词

ubr1 gene,syndrome,heterozygous variants,johanson-blizzard

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