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

Author:

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

Abstract

AbstractDonohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference60 articles.

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4. Reduced stem cell factor links smooth myopathy and loss of interstitial cells of cajal in murine diabetic gastroparesis;Gastroenterology,2006

5. Remodeling of networks of interstitial cells of Cajal in a murine model of diabetic gastroparesis;Diabetes,2000

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