Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

X-linked mental retardation is a common disorder that accounts for 5–10% of cases of mental retardation in males. Fragile X syndrome is the most common form resulting from a loss of expression of the FMR1 gene. On the other hand, partial duplication of the long arm of the X chromosome is uncommon. I...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987214/
https://ncbi.nlm.nih.gov/pubmed/19844254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.159
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados