A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene—a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. The key...

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Detalles Bibliográficos
Autores principales: Ta, Daniel, Downs, Jenny, Baynam, Gareth, Wilson, Andrew, Richmond, Peter, Leonard, Helen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8939085/
https://www.ncbi.nlm.nih.gov/pubmed/35313898
http://dx.doi.org/10.1186/s13023-022-02278-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8939085/
https://www.ncbi.nlm.nih.gov/pubmed/35313898
http://dx.doi.org/10.1186/s13023-022-02278-w

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