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Article

A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.

American journal of medical genetics. Part A - 1 Dec 2011

Park Sung Won, Lee Seung-Tae, Sohn Young Bae, Kim Se Hwa, Cho Sung-Yoon, Ko Ah-Ra, Ji Sun-Tae, Kwon Jeong-Yi, Yeau Sunghee, Paik Kyung-Hoon, Kim Jong-Won, Jin Dong-Kyu

Abstract excerpt

The exon-3 deletion polymorphism (d3, Database of Genomic Variants ID: Variation_64191) in the growth hormone receptor (GHR) gene is associated with increased growth response to growth hormone (GH) therapy in GH-deficient patients. However, an association of the GHR genotype with height has not yet been reported in Prader-Willi syndrome (PWS). The aim of this study was to assess the association of GHR alleles...

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Share to Body Height
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Genetic

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Share to Receptors, Somatotropin

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Source

Identifiers

PMID: 22052808
DOI: 10.1002/ajmg.a.34309

Genes

GHR
SDS

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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