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Article

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

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Nov 1997

Baumann G, Maheshwari H

Abstract excerpt

We report the discovery of a cluster of severe familial dwarfism in two villages in the Province of Sindh in Pakistan. Dwarfism is proportionate and occurs in members of a kindred with a high degree of consanguinity. Only the last generation is affected, with the oldest dwarf being 28 years old. The mode of inheritance is autosomal recessive. Phenotype analysis and endocrine testing revealed isolated growth...

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Source

Identifiers

PMID: 9401536
DOI: 10.1111/j.1651-2227.1997.tb18366.x

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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The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.PMID 9401536Read ↗

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

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Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.Semantic proximity Read ↗

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.Semantic proximity Read ↗

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

A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.Semantic proximity Read ↗

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.Semantic proximity Read ↗

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Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.Semantic proximity Read ↗

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