Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6

We report a Saudi girl who presented at birth with neonatal diabetes, duodenal atresia, and progressive cholestasis. After other gene testing was negative, the clinical diagnosis of Mitchell-Riley syndrome was ultimately considered and further genetic analysis revealed a novel missense homozygous va...

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Detalles Bibliográficos
Autores principales: Kambal, Mohammed Abdulmageed, Al-Harbi, Doha Ayed, Al-Sunaid, Areej Rashed, Al-Atawi, Mohsen Suliaman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591266/
https://www.ncbi.nlm.nih.gov/pubmed/31275908
http://dx.doi.org/10.3389/fped.2019.00243

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591266/
https://www.ncbi.nlm.nih.gov/pubmed/31275908
http://dx.doi.org/10.3389/fped.2019.00243

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