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Article

Molecular basis of inherited growth hormone resistance in childhood.

Bailliere's clinical endocrinology and metabolism - 1 Jul 1996

Amselem S, Sobrier M L, Dastot F, Duquesnoy P, Duriez B, Goossens M

Abstract excerpt

The growth hormone receptor (GHR), a member of the cytokine receptor superfamily that gives rise to a soluble and circulating counterpart (GHBP), is the main target of Laron syndrome (LS), a severe autosomal recessive dwarfism characterized by complete GH insensitivity. Genetic and mutation analy...

Topics

Carrier Proteins
Child
Growth Disorders
Human Growth Hormone
Humans
Mutation
Phenotype
Polymorphism, Genetic
Receptors, Somatotropin

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8853444
DOI: 10.1016/s0950-351x(96)80485-x

Genes

GHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8853444-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Molecular basis of inherited growth hormone resistance in childhood.PMID 8853444Read ↗

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

[Growth hormone receptor and dwarfism].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 ↗

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

The spectrum of growth-hormone insensitivity.Semantic proximity Read ↗

[GH receptor gene mutations and growth failure].Semantic proximity Read ↗

Growth Hormone Receptor Mutations Related to Individual Dwarfism.Semantic proximity Read ↗

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.Semantic proximity Read ↗

Growth hormone receptor gene mutations in two Italian patients with 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 ↗

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.Semantic proximity Read ↗

Molecular genetics of Laron-type GH insensitivity syndrome.Semantic proximity Read ↗

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