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- Title
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
- Authors
Khan, Nusrat; Dandan, Waleed; Hassani, Noura Al; Hadi, Suha
- Abstract
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 different from the previously known mutations for the disease. This is the first reported case of a classical Mitchell-Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene.
- Subjects
UNITED Arab Emirates; DUODENUM abnormalities; SYNDROMES; DIABETES; FETAL growth retardation; GALLBLADDER; HEMOCHROMATOSIS; HYPOSPADIAS; INBORN errors of metabolism; GENETIC mutation; PANCREAS; CHILDREN; GENETICS
- Publication
Journal of Clinical Research in Pediatric Endocrinology, 2016, Vol 8, Issue 2, p246
- ISSN
1308-5727
- Publication type
Article
- DOI
10.4274/jcrpe.2387