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Article

GH receptor d3 polymorphism in Dutch patients with MPHD and IGHD born small or appropriate for gestational age.

Clinical endocrinology - 1 Jun 2008

de Graaff L C G, Meyer S, Els C, Hokken-Koelega A C S

Abstract excerpt

OBJECTIVE: GH acts through the GH receptor (GHR). The GHR gene contains a genetic polymorphism caused by a deletion of exon 3 (d3), with high frequency in the normal population. There is a continuing controversy whether the presence or absence of the exon 3 deletion (d3+ vs. d3-) affects the effect of GH in human growth. DESIGN, PATIENTS AND MEASUREMENTS: For 144 patients with idiopathic isolated GH deficiency...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18031312
DOI: 10.1111/j.1365-2265.2007.03140.x

Genes

GHR
AGA
SDS

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

GH receptor d3 polymorphism in Dutch patients with MPHD and IGHD born small or appropriate for gestational age.PMID 18031312Read ↗

Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns.Semantic proximity Read ↗

GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism.Semantic proximity Read ↗

The Presence of the d3-Growth Hormone Receptor Polymorphism Is Negatively Associated with Fetal Growth but Positively Associated with Postnatal Growth in Healthy SubjectsSemantic proximity Read ↗

Different relationships between the first 2 years on growth hormone treatment and the d3-growth hormone receptor polymorphism in short small-for-gestational-age (SGA) childrenSemantic proximity Read ↗

Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism Genotype Frequencies in Spanish Short Small-for-Gestational-Age (SGA) Children and Adolescents (n = 247) and in an Adult Control Population (n = 289) Show Increasedfl/flin Short SGASemantic proximity Read ↗

The Growth Response to Growth Hormone (GH) Treatment in Children with Isolated GH Deficiency Is Independent of the Presence of the Exon 3-Minus Isoform of the GH ReceptorSemantic proximity Read ↗

The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults.Semantic proximity Read ↗

The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children.Semantic proximity Read ↗

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Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age Children.Semantic proximity Read ↗

The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age.Semantic proximity Read ↗

The growth hormone receptor exon 3-deleted/full-length polymorphism and response to growth hormone therapy in prepubertal idiopathic short children.Semantic proximity Read ↗

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