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Article

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

Italian journal of pediatrics - 12 Oct 2017

Moia Stefania, Tessaris Daniele, Einaudi Silvia, de Sanctis Luisa, Bona Gianni, Bellone Simonetta, Prodam Flavia

Abstract excerpt

BACKGROUND: Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels, in presence of very low or undetectable IGF-I levels, which do not rise after rhGH treatment. CASE PRESENTATION: We...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29025428
DOI: 10.1186/s13052-017-0411-7
PMCID: PMC5639735

Genes

GHR
SDS

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.

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Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.PMID 29025428Read ↗

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