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[Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2023

Zeng Li'na, Lin Li, Zhang Yan, Lin Kun, Xu Qing, Lin Congshan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with recurrent fetal hydrocephalus. METHODS: A couple who had presented at the Affiliated Hospital of Putian College on March 3, 2021 was selected as the study subject. Following elective abortion, fetal tissue and peripheral blood samples were respectively obtained from the abortus and the couple, and were subjected to whole exome...

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Identifiers

PMID: 37368380
DOI: 10.3760/cma.j.cn511374-20220624-00426

Genes

B3GALNT2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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