Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

BACKGROUND—Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases.
METHODS—We have screened...

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Autors principals: Villard, L., Levy, N., Xiang, F., Kpebe, A., Labelle, V., Chevillard, C., Zhang, Z., Schwartz, C., Tardieu, M., Chelly, J., Anvret, M., Fontes, M.
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2001
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1757181/
https://ncbi.nlm.nih.gov/pubmed/11432961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.7.435
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