Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rarely caused by pancreatic agenesis. Homozygous truncating mutations in the PTF1A gene, which encodes a transcriptional factor, have been reported in patients with pancreatic and cerebellar agenesis, wh...

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Detalles Bibliográficos
Autores principales: Gabbay, Monica, Ellard, Sian, De Franco, Elisa, Moisés, Regina S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596810/
https://www.ncbi.nlm.nih.gov/pubmed/28663161
http://dx.doi.org/10.4274/jcrpe.4494

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596810/
https://www.ncbi.nlm.nih.gov/pubmed/28663161
http://dx.doi.org/10.4274/jcrpe.4494

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