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[Genetic analysis of a Chinese pedigree affected with Isolated growth hormone deficiency due to variant of CHRHR gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2025

Yin Hui, Cao Bingyan, Liu Ziqin, Song Fuying, Liu Ying, Liu Yi, Chen Xiaobo

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of a Chinese pedigree affected with congenital Isolated growth hormone deficiency (IGHD). METHODS: A pedigree presenting with Pituitary stalk interruption syndrome (PSIS) (including the proband, his two younger sisters and both parents) who had visited the Capital Institute of Pediatrics Affiliated to Capital Medical University in September 2020 was...

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Identifiers

PMID: 41811041
DOI: 10.3760/cma.j.cn511374-20250424-00249

Genes

GHRHR

Variants

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