Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958)

Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958)

Introduction. X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene is one of the most common monogenic variants of intellectual deficiency in women.Purpose of the study. Description of the clinical and genetic characteristics of Russian female patients with type 102 menta...

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Bibliographic Details
Main Authors: E. L. Dadali, T. V. Markova, O. A. Levchenko, A. L. Chukhrova, O. A. Shchagina
Format: Article
Language:Russian
Published: ABV-press 2020-06-01
Series:Nervno-Myšečnye Bolezni
Subjects:
type 102 mental retardation
x-chromosome lionization
ddx3x gene
Online Access:https://nmb.abvpress.ru/jour/article/view/375

Internet

https://nmb.abvpress.ru/jour/article/view/375

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