A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
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ABSTRACT:
SUBMITTER: Khan N
PROVIDER: S-EPMC5096485 | biostudies-other | 2016 Jun
REPOSITORIES: biostudies-other
Publications
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
Khan Nusrat N Dandan Waleed W Al Hassani Noura N Hadi Suha S
Journal of clinical research in pediatric endocrinology 20150118 2
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, except for neonatal diabetes and tracheoesophageal fistula. However, the genetic mutation in (regulatory factor X on chromosome 6) RFX6 was only detected in babies who had diabetes, making it differen ...[more]
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