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Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3

OBJECTIVE: NEUROG3 plays a central role in the development of both pancreatic islets and enteroendocrine cells. Homozygous hypomorphic missense mutations in NEUROG3 have been recently associated with a rare form of congenital malabsorptive diarrhea secondary to enteroendocrine cell dysgenesis. Inter...

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Detalles Bibliográficos
Autores principales: Rubio-Cabezas, Oscar, Jensen, Jan N., Hodgson, Maria I., Codner, Ethel, Ellard, Sian, Serup, Palle, Hattersley, Andrew T.
Formato: Texto
Lenguaje:English
Publicado: American Diabetes Association 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064109/
https://www.ncbi.nlm.nih.gov/pubmed/21378176
http://dx.doi.org/10.2337/db10-1008