Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage

Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-function mutations in the gene Methyl-CpG-binding protein 2 (MECP2), which encodes the MeCP2 protein. RTT is a MECP2-related disorder, along with MECP2 duplication syndrome (MDS), caused by gain-of-function duplicat...

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Detalles Bibliográficos
Autores principales: Collins, Bridget E, Neul, Jeffrey L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719276/
https://www.ncbi.nlm.nih.gov/pubmed/36471747
http://dx.doi.org/10.2147/NDT.S371483

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719276/
https://www.ncbi.nlm.nih.gov/pubmed/36471747
http://dx.doi.org/10.2147/NDT.S371483

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