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[Clinical and genetic analysis of a patient with Ataxia and vitamin E deficiency due to homozygous variant of TTPA gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2024

Wang Mei, Xiang Cheng, Hong Zhidan, Ma Ling, Zhang Ming, Zhang Yuanzhen

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a patient with Ataxia and vitamin E deficiency syndrome (AVED) due to a variant of TTPA gene. METHODS: A patient diagnosed with AVED (proband), intended for assisted reproductive technology for pregnancy in Zhongnan Hospital of Wuhan University in July 2023, was selected as research subject. Clinical data of the proband were collected,...

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PMID: 39528284
DOI: 10.3760/cma.j.cn511374-20240103-00006

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