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-  2016 

Rett syndrome: a wide clinical and autonomic picture

DOI: 10.1186/s13023-016-0499-7

Keywords: Rett syndrome, MECP2: Methyl CpG binding protein 2, CDKL5: Cyclin dependent kinase-like 5, FOXG1: Forkhead box G1, Z-RTT: Preserved speech variant or “Zappella variant”, ARTT-NOS: Atypical RTT-not otherwise specified

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Abstract:

Rett Syndrome is a neurodevelopmental disorder almost exclusively affecting females, characterized by a broad clinical spectrum of signs and symptoms and a peculiar course. The disease affects different body systems: nervous, muscolo-skeletal, gastro-enteric. Moreover, part of the symptoms are related to the involvement of the autonomic nervous system

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