AustralieFrV1, Main, Curation, bibRecord, 007189

Rett syndrome: Revised diagnostic criteria and nomenclature

Identifieur interne : 007189 ( Main/Curation ); précédent : 007188; suivant : 007190

Rett syndrome: Revised diagnostic criteria and nomenclature

Auteurs : Guillaume Jeffrey L. Neul [États-Unis] ; Walter E. Kaufmann [États-Unis] ; Daniel G. Glaze [États-Unis] ; John Christodoulou [Australie] ; Angus J. Clarke [Royaume-Uni] ; Nadia Bahi-Buisson [France] ; Helen Leonard [Australie] ; Mark E. S. Bailey [Royaume-Uni] ; N. Carolyn Schanen [États-Unis] ; Michele Zappella [Italie] ; Alessandra Renieri [Italie] ; Peter Huppke [Allemagne] ; Alan K. Percy [États-Unis]

Source :

Annals of Neurology [ 0364-5134 ] ; 2010-12.

RBID : ISTEX:D5C8C3CB88527299EA74C14565BDEA531C5B92EC

Descripteurs français

Wicri :
- topic : Neurologie.

English descriptors

Abstract

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 and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

Url:

DOI: 10.1002/ana.22124

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<front><div type="abstract">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 and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.</div>
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Rett syndrome: Revised diagnostic criteria and nomenclature

Rett syndrome: Revised diagnostic criteria and nomenclature

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

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Pour manipuler ce document sous Unix (Dilib)

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