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[Genetic analysis of microcephaly-cortical blind syndrome due to compound heterozygous variants of DIAPH1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Li Xiaobing, Lai Panjian, Cheng Kaichao, Wang Dayan

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with microcephaly-cortical blind syndrome. METHODS: Clinical data of the child was collected. The child and her parents were subjected to whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing. RESULTS: WES revealed that the child has harbored compound heterozygous variants c.1051C>T and c.609delA of the DIAPH1 gene. CONCLUSION:...

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Identifiers

PMID: 36184095
DOI: 10.3760/cma.j.cn511374-20210909-00737

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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