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Article

New growth hormone receptor exon 9 mutation causes genetic short stature.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Feb 1999

Ayling R M, Ross R J, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan C R, Clayton P E, Norman M R

Abstract excerpt

A novel form of congenital growth hormone insensitivity syndrome (GHIS), which lacks the classic phenotype associated with this condition, is described. Dominant inheritance is shown to result from a heterozygous 876-1 G to C transversion of the 3' splice acceptor site preceding exon 9 in the growth hormone receptor (GHR) gene. The result of this mutation is a severely truncated cytoplasmic domain of the GHR,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10102075
DOI: 10.1111/j.1651-2227.1999.tb14380.x

Genes

GHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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