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Identification and functional analysis of first heterozygous frameshift mutation in the GHRH gene in a Chinese boy with isolated growth hormone deficiency.

Gene - 20 May 2024

Wei Shuoshuo, Zhang Mei, Li Yanying, Yang Wanling, Zhang Chuanpeng, Liu Fupeng, Chen Shuxiong, Ban Bo, He Dongye

Abstract excerpt

BACKGROUND: Isolated growth hormone deficiency (IGHD) is a rare genetically heterogeneous disorder caused primarily by mutations in GH1 and GH releasing hormone receptor (GHRHR). The aim of this study was to identify the molecular etiology of a Chinese boy with IGHD. METHODS: Whole-exome sequencing, sanger sequencing and bioinformatic analysis were performed to screen for candidate mutations. The impacts of...

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Identifiers

PMID: 38354915
DOI: 10.1016/j.gene.2024.148283

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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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