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Article

Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.

European journal of endocrinology - 1 Sept 2020

Hou Qiao, Wu Jiayu, Zhao Yaguang, Wang Xinying, Jiang Fang, Chen Dan-Na, Zheng Ruizhi, Men Meichao, Li Jia-Da

Abstract excerpt

OBJECTIVE: To identify CCDC141 variants in a large Chinese cohort with congenital hypogonadotropic hypogonadism (CHH) and to assess the contribution of CCDC141 to CHH. DESIGN: Detailed phenotyping was conducted in CHH patients with CCDC141 variants and co-segregation analysis was performed, when possible. METHODS: Whole-exome sequencing was performed in 177 CHH patients and 450 unrelated, ethnically matched...

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PMID: 32520725
DOI: 10.1530/EJE-19-1018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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