Type 6 hypomyelinating leukodystrophy caused by a de novo mutation in the tubulin beta-4A gene

The article presents the results of long-term dynamics of the clinical and radiological picture of a child with a rare neurodegenerative disease — hypomyelinating leukodystrophy, type 6 (hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum) caused by a de novo mutation in...

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Bibliographic Details
Main Authors: I. Yu. Ozhegova, A. Yu. Asanov, O. N. Voskresenskaya, D. S. Razheva, O. B. Kondakova, E. A. Nikolaeva
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2020-09-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/1211