Article
Rett syndrome: revised diagnostic criteria and nomenclature.
Annals of neurology - 1 Dec 2010
Neul Jeffrey L, Kaufmann Walter E, Glaze Daniel G, Christodoulou John, Clarke Angus J, Bahi-Buisson Nadia, Leonard Helen, Bailey Mark E S, Schanen N Carolyn, Zappella Michele, Renieri Alessandra, Huppke Peter, Percy Alan K
Abstract excerpt
OBJECTIVE: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise...
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