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Article

Novel growth hormone receptor gene mutation in a patient with Laron syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 2010

Arman Ahmet, Yüksel Bilgin, Coker Ajda, Sarioz Ozlem, Temiz Fatih, Topaloglu Ali Kemal

Abstract excerpt

Growth Hormone (GH) is a 22 kDa protein that has effects on growth and glucose and fat metabolisms. These effects are initiated by binding of growth hormone (GH) to growth hormone receptors (GHR) expressed in target cells. Mutations or deletions in the growth hormone receptor cause an autosomal disorder called Laron-type dwarfism (LS) characterized by high circulating levels of serum GH and low levels of insulin...

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Source

Identifiers

PMID: 20583548
DOI: 10.1515/jpem.2010.064

Genes

GHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Novel growth hormone receptor gene mutation in a patient with Laron syndrome.PMID 20583548Read ↗

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Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.Semantic proximity Read ↗

Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome.Semantic proximity Read ↗

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.Semantic proximity Read ↗

Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.Semantic proximity Read ↗

Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree.Semantic proximity Read ↗

Diverse growth hormone receptor gene mutations in Laron syndrome.Semantic proximity Read ↗

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[Laron syndrome by loss of functions of growth hormone receptor].Semantic proximity Read ↗

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