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Article

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

Human molecular genetics - 1 Apr 1993

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

Abstract excerpt

Laron syndrome is a rare autosomal recessive disorder characterized by resistance to growth hormone (GH). In 10 patients of different ethnic origins, we have analyzed all the GH receptor (GHR)-coding exons along with their splice junctions and 6 intragenic polymorphic sites defining several GHR gene haplotypes. This allowed us to identify the mutations in the 20 chromosomes studied and to describe a new GHR...

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Identifiers

PMID: 8504296
DOI: 10.1093/hmg/2.4.355

Genes

GHR

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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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