Rett syndrome: Revised diagnostic criteria and nomenclature

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 recen...

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Vydáno v:	Annals of neurology Ročník 68; číslo 6; s. 944 - 950
Hlavní autoři:	Jeffrey L. Neul, 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.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.12.2010 Wiley-Liss
Témata:	Animals Biological and medical sciences Humans Malformations of the nervous system Medical sciences Methyl-CpG-Binding Protein 2 - genetics Mutation - genetics Neurology Rett Syndrome - diagnosis Rett Syndrome - genetics Terminology as Topic Nervous system diseases Central nervous system disease Rett syndrome Degenerative disease Diagnosis Genetic disease Cerebral disorder
ISSN:	0364-5134, 1531-8249, 1531-8249
On-line přístup:	Získat plný text
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