
Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia))
Author(s) -
Mariya Ivanova,
В. В. Кадышев,
Д. С. Атарщиков,
I. V. Zolnikova,
N.P. Akchurina,
N K Serova,
Ф. А. Коновалов,
Ekaterina Tolmacheva,
E.А. Pomerantseva,
Nataliya Vetrova,
D. Barh,
Л. М. Балашова,
Ж. М. Салмаси
Publication year - 2020
Publication title -
kliničeskaâ oftalʹmologiâ/rmž "kliničeskaâ oftalʹmologiâ"
Language(s) - English
Resource type - Journals
eISSN - 2619-1571
pISSN - 2311-7729
DOI - 10.32364/2311-7729-2020-20-1-32-36
Subject(s) - neurodegeneration , atrophy , phenotype , neuroscience , mutation , pathology , medicine , gene , biology , genetics , disease