Updating the profile of C-terminal MECP2 deletions in Rett syndrome

OBJECTIVES: This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions. METHODS: Cases were selected from InterRett, an international database and from...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Bebbington, A, Percy, A, Christodoulou, J, Ravine, D, Ho, G, Jacoby, P, Anderson, A, Pineda, M, Ben Zeev, B, Bahi-Buisson, N, Smeets, E, Leonard, H
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2009
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3913726/
https://ncbi.nlm.nih.gov/pubmed/19914908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.072553
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