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R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report

Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features. The Rett syndrome is associated with a broad phenotypic spectrum. It ranges from a...

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Detalles Bibliográficos
Autores principales: Bouzroud, Wafaa, Tazzite, Amal, Berrada, Sarah, Gazzaz, Bouchaïb, Dehbi, Hind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9486266/
https://www.ncbi.nlm.nih.gov/pubmed/36147795
http://dx.doi.org/10.1177/2632010X221124269