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Article

Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2008

Arman Ahmet, Ozon Alev, Isguven Pinar S, Coker Ajda, Peker Ismail, Yordam Nursen

Abstract excerpt

Growth hormone (GH) is involved in growth, and fat and carbohydrate metabolism. Interaction of GH with the GH receptor (GHR) is necessary for systemic and local production of insulin-like growth factor-I (IGF-I) which mediates GH actions. Mutations in the GHR cause severe postnatal growth failure; the disorder is an autosomal recessive genetic disease resulting in GH insensitivity, called Laron syndrome. It is...

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Identifiers

PMID: 18404972
DOI: 10.1515/jpem.2008.21.1.47

Genes

GHR

Variants

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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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