Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort

BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients. AIMS: To describe a cohort of WRS patients and discuss the pattern and management of their...

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Detalles Bibliográficos
Autores principales: Habeb, Abdelhadi M., Deeb, Asma, Johnson, Matthew, Abdullah, Mohammed, Abdulrasoul, Majidah, Al-Awneh, Hussain, Al-Maghamsi, Mohammed S.F., Al-Murshedi, Fathiya, Al-Saif, Ramlah, Al-Sinani, Siham, Ramadan, Dina, Tfayli, Hala, Flanagan, Sarah E., Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2015
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464042/
https://www.ncbi.nlm.nih.gov/pubmed/25659842
http://dx.doi.org/10.1159/000369804

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