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Article

A novel mutation of the growth hormone receptor gene (GHR) in a Chinese girl with Laron syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Chen Xiaoli, Song Fang, Dai Yaohua, Bao Xiulan, Jin Yuwei

Abstract excerpt

Laron syndrome, also known as growth hormone insensitivity syndrome (GHIS), is an autosomal recessive genetic disorder associated with severe postnatal growth failure, and normal and/or elevated growth hormone. This disease is frequently caused by a point mutation in the growth hormone receptor gene (GHR). Here, we identified a novel homozygous substitution mutation (E42K: GAG-->AAG at codon 42 cDNA) of the GHR...

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Source

Identifiers

PMID: 14594180
DOI: 10.1515/jpem.2003.16.8.1183

Genes

GHR

Variants

Provenance

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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