Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)

Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)

Introduction. The description of the clinical and genetic characteristics of eight patients with autosomal-recessive variant pontocerebellar hypoplasia due to mutations in the TSEN54 gene.Purpose. Description of clinical and genetic characteristics of Russian patients with type 2A and type 4 of pont...

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Bibliographic Details
Main Authors: E. I. Dadali, I. A. Akimova, N. A. Semenova, D. M. Guseva, O. A. Shchagina, A. I. Chukhrova, I. V. Kanivets, S. A. Korostelev
Format: Article
Language:Russian
Published: ABV-press 2019-07-01
Series:Нервно-мышечные болезни
Subjects:
pontocerebellar hypoplasia
tsenopathy
magnetic resonance imaging
Online Access:https://nmb.abvpress.ru/jour/article/view/324
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