MUTATIONS IN THE ARX GENE: CLINICAL, ELECTROENCEPHALOGRAPHIC AND NEUROIMAGING FEATURES IN 3 PATIENTS
Author(s) -
Ю. В. Иванова,
К. Yu. Мukhin,
О. А. Пылаева,
M. Yu. Bobylоva,
Н. Е. Кваскова,
А. С. Петрухин
Publication year - 2017
Publication title -
russian journal of child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 2
eISSN - 2412-9178
pISSN - 2073-8803
DOI - 10.17650/2073-8803-2017-12-3-58-67
Subject(s) - missense mutation , genetics , gene duplication , epilepsy , lissencephaly , biology , intellectual disability , global developmental delay , athetosis , homeobox , mutation , gene , medicine , neuroscience , phenotype , chorea , transcription factor , disease
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