Article
Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.
Hormone research in paediatrics - 1 Jan 2015
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
Abstract excerpt
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 liver disease. METHODS: Detailed phenotyping and direct sequencing of EIF2AK3 gene were conducted in all patients....
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