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Article

Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.

The Journal of clinical endocrinology and metabolism - 1 Nov 1998

Maheshwari H G, Silverman B L, Dupuis J, Baumann G

Abstract excerpt

We report, in detail, a new form of familial dwarfism, including its phenotypic features, hormonal profile, and molecular basis. Following a newspaper report of severe dwarfism in two villages in the province of Sindh, Pakistan, we organized an expedition to study its clinical, genetic, and molecular characteristics. We identified 18 dwarfs (15 male, 3 female), all members of a consanguineous kindred, ranging in...

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Identifiers

PMID: 9814493
DOI: 10.1210/jcem.83.11.5226

Genes

GHRH

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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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Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.PMID 9814493Read ↗

The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.Semantic proximity Read ↗

Phenotype and Genetic Analysis of a Syndrome Caused by an Inactivating Mutation in the Growth Hormone-Releasing Hormone Receptor: Dwarfism of SindhSemantic proximity Read ↗

Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans.Semantic proximity Read ↗

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Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.Semantic proximity Read ↗

Growth Hormone Receptor Mutations Related to Individual Dwarfism.Semantic proximity Read ↗

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