Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension
Sílvia Vilarinho, Sinan Sari, Güldal Yilmaz, Amy L. Stiegler, Titus J. Boggon, Dhanpat Jain, Gulen Akyol, Buket Dalgic, Murat Günel, Richard P. Lifton – 13 February 2016 – Despite advances in the diagnosis and management of idiopathic noncirrhotic portal hypertension, its pathogenesis remains elusive. Insight may be gained from study of early‐onset familial idiopathic noncirrhotic portal hypertension, in which Mendelian mutations may account for disease.