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Article

Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Rosenbloom A L, Berg M A, Kasatkina E P, Volkova T N, Skorobogatova V F, Sokolovskaya V N, Francke U

Abstract excerpt

Primary GH insensitivity (Laron syndrome) due to GH receptor deficiency (GHRD) is an autosomal recessive condition characterized by severe growth failure. Diverse alterations in the GHR gene have been reported in affected individuals. We report here the first family with GHRD from Russia, with two affected siblings and consanguineous parents. Analysis of blood spot DNA by polymerase chain reaction (PCR),...

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Source

Identifiers

PMID: 8521189
DOI: 10.1515/jpem.1995.8.3.159

Genes

GHR

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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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