De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may acco...

Descripción completa

Detalles Bibliográficos
Autores principales: Henriksen, Mari Wold, Ravn, Kirstine, Paus, Benedicte, von Tetzchner, Stephen, Skjeldal, Ola H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180591/
https://www.ncbi.nlm.nih.gov/pubmed/30305042
http://dx.doi.org/10.1186/s12881-018-0700-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180591/
https://www.ncbi.nlm.nih.gov/pubmed/30305042
http://dx.doi.org/10.1186/s12881-018-0700-z

Ejemplares similares