Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report

BACKGROUND: Maturity-onset diabetes of the young comprises a large group of autosomal inherited gene mutations. Maturity-onset diabetes of the young subtype 5 is caused by mutations in the HNF1B gene. This gene is expressed in the early phase of embryonic development in the pancreas, kidneys, liver,...

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Detalles Bibliográficos
Autores principales: Guzmán, Guillermo Edinson, Madariaga, Ithzayana, Vargas, Carlos Julio, Galeano, Laura Ballen, Guerra, Maria Angélica, Nastasi, Jose Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10074670/
https://www.ncbi.nlm.nih.gov/pubmed/37016461
http://dx.doi.org/10.1186/s13256-023-03873-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10074670/
https://www.ncbi.nlm.nih.gov/pubmed/37016461
http://dx.doi.org/10.1186/s13256-023-03873-6

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