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Rett syndrome: clinical review and genetic update

Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early...

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Autori principali: Weaving, L, Ellaway, C, Gecz, J, Christodoulou, J
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2005
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735910/
https://ncbi.nlm.nih.gov/pubmed/15635068
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.027730
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