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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Detalles Bibliográficos
Autores principales: Cuenca, Dalia, Ventura-Gallegos, Jose Luis, Almeda-Valdes, Paloma, Tusié-Luna, María Teresa, Reza-Albarran, Alfredo, Ventura-Ayala, Laura, Ordoñez-Sánchez, Ma. Luisa, Segura-Kato, Yayoi, Gomez-Perez, Francisco Javier, Conte, Michelle De Puy, Gonzalez, Lizbet Ruilova, Zentella-Dehesa, Alejandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024124/
https://www.ncbi.nlm.nih.gov/pubmed/36941956
http://dx.doi.org/10.1016/j.ymgmr.2023.100965

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024124/
https://www.ncbi.nlm.nih.gov/pubmed/36941956
http://dx.doi.org/10.1016/j.ymgmr.2023.100965

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