A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Mitchell-Riley syndrome is a genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia. It was considered a variant of the Martinez-Frias syndrome with similar phenotypic characteristics,...

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Detalles Bibliográficos
Autores principales: Khan, Nusrat, Dandan, Waleed, Al Hassani, Noura, Hadi, Suha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096485/
https://www.ncbi.nlm.nih.gov/pubmed/26761945
http://dx.doi.org/10.4274/jcrpe.2387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096485/
https://www.ncbi.nlm.nih.gov/pubmed/26761945
http://dx.doi.org/10.4274/jcrpe.2387

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