Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease...

Descripción completa

Detalles Bibliográficos
Autores principales: Zegre Amorim, Marta, Houghton, Jayne A. L., Carmo, Sara, Salva, Inês, Pita, Ana, Pereira-da-Silva, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681791/
https://www.ncbi.nlm.nih.gov/pubmed/26770845
http://dx.doi.org/10.1155/2015/937201

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681791/
https://www.ncbi.nlm.nih.gov/pubmed/26770845
http://dx.doi.org/10.1155/2015/937201

Ejemplares similares