Cargando…
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and is one of the most prevalent causes of intellectual disability in females. More than fifty years after the first publication on Rett syndrome...
Autores principales: | Vidal, Silvia, Xiol, Clara, Pascual-Alonso, Ainhoa, O’Callaghan, M., Pineda, Mercè, Armstrong, Judith |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719047/ https://www.ncbi.nlm.nih.gov/pubmed/31409060 http://dx.doi.org/10.3390/ijms20163925 |
Ejemplares similares
-
Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders
por: Xiol, Clara, et al.
Publicado: (2021) -
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
por: Xiol, Clara, et al.
Publicado: (2019) -
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
por: Vidal, Silvia, et al.
Publicado: (2019) -
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
por: Pascual-Alonso, Ainhoa, et al.
Publicado: (2023) -
Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
por: Oyarzabal, Alfonso, et al.
Publicado: (2020)