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Article

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jun 2016

Azzabi Ons, Jilani Houweyda, Rejeb Imen, Siala Nadia, Elaribi Yasmina, Hizem Syrine, Selmi Ines, Halioui Sonia, Lascols Olivier, Jemaa Lamia Ben, Maherzi Ahmed

Abstract excerpt

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26974131
DOI: 10.1515/jpem-2015-0232

Genes

INSR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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