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

Published in:	Нервно-мышечные болезни
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
Subjects:	distal arthrogryposis type 5, mechanosensitive ion channel, piezo2 gene
Online Access:	https://nmb.abvpress.ru/jour/article/view/600