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Genetic testing for maturity-onset diabetes of the young resulting in an upgraded genetic classification of an HNF1A gene variant: a case report

The frequent misdiagnosis of MODY (Maturity-Onset Diabetes of the Young) subtypes makes it necessary to clarify the clinical spectrum of the disease phenotypes in suspected subjects so that accurate diagnosis and management plans can be introduced as early as possible in the course of the disease. W...

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Detalles Bibliográficos
Autores principales: Pollack-Schreiber, Naama, Nwosu, Benjamin Udoka, Salemi, Parissa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10313222/
https://www.ncbi.nlm.nih.gov/pubmed/37396173
http://dx.doi.org/10.3389/fendo.2023.1173471