Delayed motor, mental and speech development and congenital brain malformations: the first description of Zhu–Tokita–Takenouchi–Kim syndrome in Russia

Zhu–Tokita–Takenouchi–Kim syndrome (ZTTK syndrome) is a rare autosomal dominant nuclear speckleopathy characterized by developmental delay, hypotonia, intellectual disability, facial dysmorphism in association with variable brain malformations, musculoskeletal abnormalities and ocular involvement. C...

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Bibliographic Details

Published in:	Нервно-мышечные болезни
Main Authors:	O. B. Kondakova, A. P. Gudkova, S. V. Demyanov, Yu. I. Davydova, A. A. Lyalina, D. I. Grebenkin, E. A. Bakovich, I. V. Kanivets, D. S. Demyanov, I. S. Zhanin, A. A. Pushkov, K. V. Savostyanov
Format:	Article
Language:	Russian
Published:	ABV-press 2024-05-01
Subjects:	zhu–tokita–takenouchi–kim syndrome zttk syndrome son gene psychomotor development delay brain malformations splicing disorders nuclear speckles specleopathies
Online Access:	https://nmb.abvpress.ru/jour/article/view/606