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Article

Classical phenotype of Laron syndrome in a girl with a heterozygous mutation and heterozygous polymorphism of the growth hormone receptor gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2004

Shevah Orit, Galli-Tsinopoulou Assimina, Rubinstein Menachem, Nousia-Arvanitakis Sanda, Laron Zvi

Abstract excerpt

We describe here a 19 month-old girl with classical Laron syndrome (LS). Molecular analysis of the GH receptor gene in the patient and her parents was performed. The patient was found to be heterozygous for a mutation in exon 4 (R43X) and heterozygous for a polymorphism in exon 6 (Gly168Gly). Her mother was also heterozygous for R43X but homozygous for the polymorphism. In the father, a heterozygous polymorphism...

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Source

Identifiers

PMID: 15112915
DOI: 10.1515/jpem.2004.17.3.371

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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.

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