Gillespiе syndrome, caused by previously undescribed mutation in the gene <i>ITPR1<i>

Gillespiе syndrome, caused by previously undescribed mutation in the gene <i>ITPR1<i>

Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris. The cause of disease – homozygous, compound heterozygous and heterozygous mutations in the gene IT...

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Bibliographic Details
Main Authors: I. V. Sharkova, I. A. Akimova, O. V. Khlebnikova, E. L. Dadali
Format: Article
Language:Russian
Published: ABV-press 2019-05-01
Series:Русский журнал детской неврологии
Subjects:
gillespie syndrome
sequencing of new generation exome
itpr1 gene
monogenic syndromes
severe retardation of motor and speech development
intellectual deficiency
iris hypoplasia
aniridia
mental retardation
cerebellar ataxia
Online Access:https://rjdn.abvpress.ru/jour/article/view/286
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