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Keywords: EIF2AK3 mutations
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Journal Articles
Abdelhadi M. Habeb, Asma Deeb, Matthew Johnson, Mohammed Abdullah, Majidah Abdulrasoul, Hussain Al-Awneh, Mohammed S.F. Al-Maghamsi, Fathiya Al-Murshedi, Ramlah Al-Saif, Siham Al-Sinani, Dina Ramadan, Hala Tfayli, Sarah E. Flanagan, Sian Ellard
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2015) 83 (3): 190–197.
Published Online: 05 February 2015
... 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...
