Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.
Author
Habeb, A. M.
Deeb, A.
Johnson, M.
Abdullah, M.
Abdulrasoul, M.
Al-Awneh, H.
Al-Maghamsi, M. S. F.
Al-Murshedi, F.
Al-Saif, R.
Al-Sinani, S.
Ramadan, D.
Tfayli, H.
Flanagan, Sarah
Ellard, Sian
Date
2015-04Journal
Hormone Research in PaediatricsType
Journal ArticleClinical Trial
Multicenter Study
Research Support, Non-U.S. Gov't
Publisher
KargerDOI
10.1159/000369804Rights
Archived with thanks to Hormone research in pædiatricsMetadata
Show full item recordAbstract
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.