MECP2-Related Disorders in Males

Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly females. In boys, however, mutations in MECP2 can...

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Detalles Bibliográficos
Autores principales: Pascual-Alonso, Ainhoa, Martínez-Monseny, Antonio F., Xiol, Clara, Armstrong, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431762/
https://www.ncbi.nlm.nih.gov/pubmed/34502518
http://dx.doi.org/10.3390/ijms22179610

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431762/
https://www.ncbi.nlm.nih.gov/pubmed/34502518
http://dx.doi.org/10.3390/ijms22179610

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