TURKISH JOURNAL OF PEDIATRICS, vol.62, no.3, pp.474-478, 2020 (Journal Indexed in SCI)
Article / Article
Title of Journal :
TURKISH JOURNAL OF PEDIATRICS
Vici syndrome, autophagy, oculocutaneous albinism, EPG5 mutation, IMMUNODEFICIENCY
Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.