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

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
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
Series:Нервно-мышечные болезни
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
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