Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease p...

Descripción completa

Detalles Bibliográficos
Autores principales: Ta, Daniel, Downs, Jenny, Baynam, Gareth, Wilson, Andrew, Richmond, Peter, Schmidt, Aron, Decker, Amelia, Leonard, Helen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332564/
https://www.ncbi.nlm.nih.gov/pubmed/35892614
http://dx.doi.org/10.3390/children9081111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332564/
https://www.ncbi.nlm.nih.gov/pubmed/35892614
http://dx.doi.org/10.3390/children9081111

Ejemplares similares