Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

Autor: T. Lourenço, Anabela Silva-Fernandes, Maria Vânia Sousa, Teresa Temudo, Bauke Ylstra, Bruno M. Costa, Sofia Moura, José Pedro Vieira, Susana Palma de Sousa, Patrícia Maciel, Mafalda Barbosa, Fátima Lopes

Publikováno v: International Journal of Developmental Neuroscience, 46, 82-87. Elsevier Limited
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
Vieira, J P, Lopes, F, Silva-Fernandes, A, Sousa, M V, Moura, S, Sousa, S, Costa, B M, Barbosa, M, Ylstra, B, Temudo, T, Lourenco, T & Maciel, P 2015, ' Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene ', International Journal of Developmental Neuroscience, vol. 46, pp. 82-87 . https://doi.org/10.1016/j.ijdevneu.2015.07.010

Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba94e4bbf7a5d9a84f9a447b534749d1
https://doi.org/10.1016/j.ijdevneu.2015.07.010