Two novel mutations identified in familial cases with Donohue syndrome

Two novel mutations identified in familial cases with Donohue syndrome

Abstract 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 report the clinical, molecular, and bi...

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Main Authors: Tzipora C. Falik Zaccai, Limor Kalfon, Aharon Klar, Mordechai Ben Elisha, Haggit Hurvitz, Galina Weingarten, Emelia Chechik, Vered Fleisher Sheffer, Raid Haj Yahya, Gal Meidan, Eva Gross‐Kieselstein, Dvora Bauman, Sylvia Hershkovitz, Yuval Yaron, Avi Orr‐Urtreger, Efrat Wertheimer
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Cardiomyopathy
Donohue syndrome
genotype–phenotype
insulin receptor.
Online Access:https://doi.org/10.1002/mgg3.43

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