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Article

Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.

The Journal of clinical endocrinology and metabolism - 1 Jul 1998

Rosenbloom A L, Guevara-Aguirre J, Berg M A, Francke U

Abstract excerpt

Heterozygosity for certain mutations of the GH receptor (GHR) gene has been proposed as the cause of partial resistance to GH, and there has been a recent demonstration of a dominant-negative effect of such a mutation in a mother and child. To examine the effect of heterozygosity in a large genetically homogeneous population with GHR deficiency, in which a substantial number of heterozygous (carrier) subjects and...

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Source

Identifiers

PMID: 9661611
DOI: 10.1210/jcem.83.7.4972

Genes

GHR
SDS

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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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Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.PMID 9661611Read ↗

Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.Semantic proximity Read ↗

Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition.Semantic proximity Read ↗

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.Semantic proximity Read ↗

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.Semantic proximity Read ↗

Normal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: a controlled study in a genetically homogeneous population.Semantic proximity Read ↗

Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.Semantic proximity Read ↗

Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.Semantic proximity Read ↗

Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.Semantic proximity Read ↗

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