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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: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Group
2005
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| Soggetti: | |
| 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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