MECP2 deletions and genotype–phenotype c
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Elisa Scala; Ilaria Longo; Federica Ottimo; Caterina Speciale; Katia Sampieri; E
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Article
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2007
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John Wiley and Sons
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English
⚖ 184 KB
👁 1 views
## Abstract Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. __MECP2__ point mutations in exons 2–4 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the gen