A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
J Clin Res Pediatr Endocrinol
; 8(2): 246-9, 2016 Jun 05.
Article
en En
| MEDLINE
| ID: mdl-26761945
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diabetes Mellitus
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Factores de Transcripción del Factor Regulador X
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Enfermedades de la Vesícula Biliar
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Atresia Intestinal
Límite:
Humans
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Male
/
Newborn
Idioma:
En
Revista:
J Clin Res Pediatr Endocrinol
Año:
2016
Tipo del documento:
Article