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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Quinteiro Celsa, Castro-Feijoo Lidia, Loidi Lourdes, Barreiro Jesus, de la Fuente Maria, Dominguez Fernando, Pombo Manuel

Abstract excerpt

Laron syndrome (LS) or growth hormone (GH) insensitivity syndrome (GHIS) is an autosomal recessive disease due to molecular defects in the GH receptor gene (GHR). Most of the identified mutations are located on the extracelular domain of the receptor. We studied the GHR gene in a patient with LS and found a homozygous missense mutation in exon 2. The novel mutation is an A-->T transversion (ATG -->TTG) that...

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Source

Identifiers

PMID: 12199334
DOI: 10.1515/jpem.2002.15.7.1041

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.

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