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Article

Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Aug 2013

Soneda Akiko, Adachi Masanori, Muroya Koji, Asakura Yumi, Takagi Masaki, Hasegawa Tomonobu, Inoue Hiroshi, Itakura Mitsuo

Abstract excerpt

OBJECTIVE: To elucidate the pathogenesis of isolated growth hormone (GH) deficiency in a Japanese girl without consanguinity. DESIGN: A 2-year-old girl of height 77.2 cm (-3.0 SD for Japanese girls) was found to have an insulin-like growth factor (IGF)-1 level of 7 ng/mL and IGF binding protein-3 (IGFBP-3) level of 0.41 μg/mL. GH responded modestly to a series of pharmacological stimulants, increasing to 2.81...

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Source

Identifiers

PMID: 23602557
DOI: 10.1016/j.ghir.2013.03.003

Genes

GHRH
GHRHR

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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