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Article

A novel exonic GHR splicing mutation (c.784G > C) in a patient with classical growth hormone insensitivity syndrome.

Hormone research in paediatrics - 1 Jan 2013

Akıncı Ayşehan, Rosenfeld Ron G, Hwa Vivian

Abstract excerpt

CONTEXT: Undetectable circulating growth hormone-binding protein (GHBP) can be indicative of a GH receptor (GHR) defect and cause GH insensitivity (GHI) syndrome. CASE REPORT: The proband, severely growth retarded from birth, had a height of 73 cm (-6 SDS) and weight of 10.5 kg (-2.5 SDS) at the age of 3.25 years; her consanguineous parents were normal statured. Basal serum GH measurement was high, >40 ng/ml,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23006617
DOI: 10.1159/000341527

Genes

GHR
SDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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