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[Clinical and genetic analysis of a Chinese patient with Alström syndrome].

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

Li Jiayue, Gao Jie, Wang Lin, Li Yanhua, Zhang Ming, Pan Xietian, Guo Xinhong

Abstract excerpt

OBJECTIVE: To explore the genetic etiology for a patient with Alström syndrome (ALMS) presenting as dilated cardiomyopathy. METHODS: A 41-year-old male patient who had presented at the Sixth Medical Center of PLA General Hospital on October 20, 2021 was selected as the study subject. Clinical and laboratory examinations were carried out. Whole exome sequencing (WES) was employed for genetic testing, and candidate...

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PMID: 38684308
DOI: 10.3760/cma.j.cn511374-20230401-00184

Genes

ALMS1

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