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- W4234480124 abstract "Abstract Rett syndrome is a neurodevelopmental disorder related to a defective protein involved in the transcription of methylated deoxyribonucleic acid (DNA). It affects almost exclusively girls. The causative gene has been identified ( MECP2 ). The diagnosis is made clinically, based on internationally accepted criteria that were recently revised. More than 95% of the MECP2 mutations occur de novo. An 80% mutation detection rate occurs in individuals with classical Rett syndrome when standard techniques are used to analyze the coding region. In variant Rett syndrome the likelihood of finding a mutation is lower. Early intervention and comprehensive life‐long management of Rett syndrome can significantly improve the health and longevity of affected individuals. Management is optimized by involvement of a multidisciplinary team consisting of many different medical and paramedical specialists and an individualized approach. Parents are an integral part of the team, as they become the greatest experts concerning their affected child's history, behavior, and needs." @default.
- W4234480124 created "2022-05-12" @default.
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- W4234480124 date "2005-01-14" @default.
- W4234480124 modified "2023-10-13" @default.
- W4234480124 title "<scp>R</scp> ett Syndrome" @default.
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- W4234480124 doi "https://doi.org/10.1002/0471695998.mgs038" @default.
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