Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

BACKGROUND: X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities. Accumulating evidence has suggested that MECP2 is the causative gene of MECP2 duplication syndrome. We report a case of a 17-year-old boy with a 1.2 ...

Descripción completa

Detalles Bibliográficos
Autores principales: Akahoshi, Keiko, Nakagawa, Eiji, Goto, Yu-ichi, Inoue, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987063/
https://www.ncbi.nlm.nih.gov/pubmed/36879246
http://dx.doi.org/10.1186/s12920-023-01465-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987063/
https://www.ncbi.nlm.nih.gov/pubmed/36879246
http://dx.doi.org/10.1186/s12920-023-01465-3

Ejemplares similares