Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report

Insulin receptor (INSR) mutations lead to heterogeneous disorders that may be as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders usually harbor homozygous or compound heterozygous mutations. In contrast, type A insulin resistance syndrome...

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Detalles Bibliográficos
Autores principales: Hacihamdioğlu, Bülent, Baş, Elif Gülşah, Delil, Kenan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947722/
https://www.ncbi.nlm.nih.gov/pubmed/32018348
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0213

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