Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

BACKGROUND: Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION: The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac...

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Detalles Bibliográficos
Autores principales: Sanchez-Lechuga, Begona, Saqlain, Muhammad, Ng, Nicholas, Colclough, Kevin, Woods, Conor, Byrne, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118888/
https://www.ncbi.nlm.nih.gov/pubmed/32245430
http://dx.doi.org/10.1186/s12881-020-01012-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118888/
https://www.ncbi.nlm.nih.gov/pubmed/32245430
http://dx.doi.org/10.1186/s12881-020-01012-2

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