FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. FOXG1 encodes a brain...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Ariani, Francesca, Hayek, Giuseppe, Rondinella, Dalila, Artuso, Rosangela, Mencarelli, Maria Antonietta, Spanhol-Rosseto, Ariele, Pollazzon, Marzia, Buoni, Sabrina, Spiga, Ottavia, Ricciardi, Sara, Meloni, Ilaria, Longo, Ilaria, Mari, Francesca, Broccoli, Vania, Zappella, Michele, Renieri, Alessandra
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2008
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2443837/
https://ncbi.nlm.nih.gov/pubmed/18571142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.05.015
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker