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Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

Amorim, M; Houghton, J; Carmo, S; Salva, I; Pita, A; Pereira-da-Silva, L

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, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue wa...

Date: 2015   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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