Open AccessR306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report
Author(s) -
Wafaa Bouzroud,
Amal Tazzite,
Sarah Berrada,
Bouchaïb Gazzaz,
Hind Dehbi
Publication year - 2022
Publication title -
clinical pathology
Language(s) - English
Resource type - Journals
ISSN - 2632-010X
DOI - 10.1177/2632010x221124269
Subject(s) - rett syndrome , mecp2 , angelman syndrome , neurodevelopmental disorder , autism , genetics , nonsense mutation , ube3a , intellectual disability , autism spectrum disorder , mutation , medicine , phenotype , bioinformatics , psychology , biology , gene , ubiquitin ligase , psychiatry , missense mutation , ubiquitin