Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations

To date, a large number of monogenic diseases and syndromes, in the clinical picture of which there are convulsions, a psycho-speech development delay and dysmorphic features have been described. One of the hereditary syndromes with a specific phenotype is the Movat–Wilson syndrome. To diagnose the...

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Bibliographic Details
Main Authors: I. A. Akimova, T. V. Markova, F. A. Konovalov, A. V. Antonets, E. L. Dadali
Format: Article
Language:Russian
Published: ABV-press 2018-10-01
Series:Nervno-Myšečnye Bolezni
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/291