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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados