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[Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2022

Xie Yidan, Zheng Ruizhi, Han Binbin, Yuan Huijuan, Hu Ziying

Abstract excerpt

OBJECTIVE: To explore clinical evaluation and genetic analysis of patients with idiopathic hypogonadotropic hypogonadism (IHH). METHODS: The clinical data and phenotypes of 22 patients with IHH diagnosed and treated in our department were reviewed and analyzed. Whole-exome sequencing (WES) and Sanger method were used for variant analysis and verification. RESULTS: Among the 22 cases of IHH probands, 12 cases of...

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DNA-Binding Proteins
DNA Helicases
Exome Sequencing
Hypogonadism
Phenotype

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PMID: 35773757
DOI: 10.3760/cma.j.cn511374-20210415-00331

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