Načítá se...

Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes

Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6–18 after normal pre- and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Ehrhart, Friederike, Coort, Susan L. M., Cirillo, Elisa, Smeets, Eric, Evelo, Chris T., Curfs, Leopold M. G.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5123333/
https://ncbi.nlm.nih.gov/pubmed/27884167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0545-5
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!