Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene

Expanding the spectrum of clinical and genetic characteristics of distal arthrogryposis type 5 caused by heterozygous variants in the PIEZO2 gene

Pathogenic heterozygous variants in the PIEZO2 gene cause distal arthrogryposis type 5 – a rare autosomal dominant disease, which is characterized by the development of congenital contractures, ophthalmoparesis, ptosis and restrictive respiratory disorders. We have presented clinical and genetic cha...

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Bibliographic Details
Main Authors: E. L. Dadali, T. V. Markova, E. A. Melnik, S. S. Nikitin, I. V. Sharkova, O. V. Khalanskaya, L. A. Bessonov, E. A. Shestopalova, O. P. Ryzhkova, S. I. Trofimova, O. E. Agranovich, S. I. Kutsev
Format: Article
Language:Russian
Published: ABV-press 2024-05-01
Series:Нервно-мышечные болезни
Subjects:
distal arthrogryposis type 5, mechanosensitive ion channel, piezo2 gene
Online Access:https://nmb.abvpress.ru/jour/article/view/600
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