Αρχειοθήκη ιστολογίου

Σάββατο 14 Ιουλίου 2018

HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature

The p.R63W mutation in hepatocyte nuclear factor-4 alpha (HNF4A) leads to a heterogeneous group of disorders with various clinical presentations. Recently, patients with congenital hyperinsulinism and Fanconi syn...

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