%0 Journal Article
%T Rett syndrome: a wide clinical and autonomic picture
%A A. Benincasa
%A A. Ferlini
%A A. M. Romanelli
%A D. Tropea
%A F. Bianchi
%A G. Pini
%A L. Congiu
%A M. F. Scusa
%A M. Zappella
%A P. Di Marco
%A P. Morescalchi
%A S. Bigoni
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0499-7
%X 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
%K Rett syndrome
%K MECP2: Methyl CpG binding protein 2
%K CDKL5: Cyclin dependent kinase-like 5
%K FOXG1: Forkhead box G1
%K Z-RTT: Preserved speech variant or ˇ°Zappella variantˇ±
%K ARTT-NOS: Atypical RTT-not otherwise specified
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041273/