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Article

Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome.

Journal of endocrinological investigation - 1 May 2007

Fassone L, Corneli G, Bellone S, Camacho-Hübner C, Aimaretti G, Cappa M, Ubertini G, Bona G

Abstract excerpt

Laron Syndrome (LS) represents a condition characterized by GH insensitivity caused by molecular defects in the GH receptor (GHR) gene or in the post-receptor signalling pathway. We report the molecular characterization of two unrelated Italian girls from Sicily diagnosed with LS. The DNA sequencing of the GHR gene revealed the presence of different nonsense mutations, occurring in the same background haplotype....

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Source

Identifiers

PMID: 17598975
DOI: 10.1007/BF03346320

Genes

GHR
CGA
GAA

Variants

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome.PMID 17598975Read ↗

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

Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups.Semantic proximity Read ↗

A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.Semantic proximity Read ↗

E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: a probable common Mediterranean ancestor.Semantic proximity Read ↗

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

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

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

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.Semantic proximity Read ↗

A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism.Semantic proximity Read ↗

Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia.Semantic proximity Read ↗

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