Two novel mutations identified in familial cases with Donohue syndrome

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 biochemical...

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Detalles Bibliográficos
Autores principales: Falik Zaccai, Tzipora C, Kalfon, Limor, Klar, Aharon, Elisha, Mordechai Ben, Hurvitz, Haggit, Weingarten, Galina, Chechik, Emelia, Fleisher Sheffer, Vered, Haj Yahya, Raid, Meidan, Gal, Gross-Kieselstein, Eva, Bauman, Dvora, Hershkovitz, Sylvia, Yaron, Yuval, Orr-Urtreger, Avi, Wertheimer, Efrat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907912/
https://www.ncbi.nlm.nih.gov/pubmed/24498630
http://dx.doi.org/10.1002/mgg3.43

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