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Article

Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.

The Journal of clinical endocrinology and metabolism - 1 Feb 2011

Inoue Hiroshi, Kangawa Natsumi, Kinouchi Atsuko, Sakamoto Yukiko, Kimura Chizuko, Horikawa Reiko, Shigematsu Yosuke, Itakura Mitsuo, Ogata Tsutomu, Fujieda Kenji

Abstract excerpt

CONTEXT: Short stature (SS) is a multifactorial developmental condition with a significant genetic component. Recent studies have revealed that rare deleterious mutations in the GH-secretagogue receptor type 1A (GHSR1A) gene could be a cause of familial SS or GH deficiency. OBJECTIVE: The aim of this study was to evaluate the contribution of GHSR1A mutations to the molecular mechanism underlying SS in Japanese...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21084395
DOI: 10.1210/jc.2010-1570

Genes

GHSR

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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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