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[Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome].

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

Wang Dujuan, Zhao Jingjing, Teng Juan, Li Wen, Zhao Xiangyu, Li Lin

Abstract excerpt

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with Lesch-Nyhan syndrome. METHODS: Members of the pedigree who had visited the Genetic Counseling Clinic of Linyi People's Hospital on February 10, 2022 were selected as the study subjects. Clinical data and family history of the proband were collected, and trio-whole exome sequencing (trio-WES) was carried out for the proband and his...

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PMID: 37212010
DOI: 10.3760/cma.j.cn511374-20220916-00629

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