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[Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2020

Yang Dongmei, Wang Xizhen, Yang Jian, Liu Dongzhi, Li Dongxiao

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a child featuring developmental delay. METHODS: The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her...

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PMID: 33306828
DOI: 10.3760/cma.j.cn511374-20191015-00528

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