Mutations and polymorphisms in the human
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Gabriel Miltenberger-Miltenyi; Franco Laccone
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Article
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2003
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John Wiley and Sons
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English
⚖ 188 KB
Rett syndrome (RTT or RS) is a neurodevelopmental disorder and one of the most frequent genetic diseases in girls. Mutations of the MECP2 gene have been found in a variety of different RTT phenotypes. The MECP2 gene (Xq28) has been described in 1992. Up to now, 218 different mutations have been repo