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[Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency].

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

Deng Jie, Zhou Zhi, Zhou Duo, Huang Renliang, Guo Min, Zhou Qiaomiao

Abstract excerpt

OBJECTIVE: To investigate the results of preimplantation genetic testing for monogenic diseases (PGT-M) in a Chinese pedigree affected with Primary carnitine deficiency (PCD). METHODS: A pedigree affected with PCD who visited Hainan Women and Children's Medical Center in April 2023 due to "SLC22A5 gene mutation found in offspring genetic testing and preparing for a second child" was selected as the study subject....

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PMID: 39653356
DOI: 10.3760/cma.j.cn511374-20240902-00466

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