Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.
NGS
Rett syndrome
Rett-like
genetics
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
12 Aug 2019
12 Aug 2019
Historique:
received:
03
07
2019
revised:
08
08
2019
accepted:
10
08
2019
entrez:
15
8
2019
pubmed:
15
8
2019
medline:
16
1
2020
Statut:
epublish
Résumé
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, and almost two decades since the first report linking RTT to the
Identifiants
pubmed: 31409060
pii: ijms20163925
doi: 10.3390/ijms20163925
pmc: PMC6719047
pii:
doi:
Substances chimiques
MECP2 protein, human
0
Methyl-CpG-Binding Protein 2
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI15/01159
Organisme : Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnología)
ID : Precipita
Organisme : Catalan Association for Rett Syndrome
ID : PFNR0004
Organisme : Fondobiorett
ID : FPNR0004
Organisme : Mi Princesa Rett
ID : PFNR0004
Déclaration de conflit d'intérêts
The authors declare no competing interests. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.
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