A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer

A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer

Severe insulin resistance can be caused by rare genetic defects in the insulin receptor known as insulin receptoropathies. These genetic defects cause a wide spectrum of clinical manifestations ranging from mild syndromes to lethal disorders. Among those is the HAIR-AN an extreme subtype of polycyst...

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Bibliographic Details
Main Authors: Dalia Cuenca, Jose Luis Ventura-Gallegos, Paloma Almeda-Valdes, María Teresa Tusié-Luna, Alfredo Reza-Albarran, Laura Ventura-Ayala, Ma. Luisa Ordoñez-Sánchez, Yayoi Segura-Kato, Francisco Javier Gomez-Perez, Michelle De Puy Conte, Lizbet Ruilova Gonzalez, Alejandro Zentella-Dehesa
Format: Article
Language:English
Published: Elsevier 2023-06-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000113

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http://www.sciencedirect.com/science/article/pii/S2214426923000113

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