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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Khan, Nusrat ; Dandan, Waleed ; Al Hassani, Noura ; Hadi, Suha

Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.246-249 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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Título:
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome
Autor: Khan, Nusrat ; Dandan, Waleed ; Al Hassani, Noura ; Hadi, Suha
Assuntos: Care and treatment ; Case Report ; Case studies ; Diabetes Mellitus - genetics ; Diabetes Mellitus - physiopathology ; Diagnosis ; Gallbladder Diseases - genetics ; Gallbladder Diseases - physiopathology ; Gene mutation ; Genetic aspects ; Humans ; Infant, Newborn ; Intestinal Atresia - genetics ; Intestinal Atresia - physiopathology ; Male ; Neonatal diseases ; Regulatory Factor X Transcription Factors - genetics
É parte de: Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.246-249
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
Descrição: 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.
Editor: Turkey: Galenos Yayinevi Tic. Ltd
Idioma: Inglês;Turco

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A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Khan, Nusrat ; Dandan, Waleed ; Al Hassani, Noura ; Hadi, Suha

Turkey: Galenos Yayinevi Tic. Ltd

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