Rett syndrome in Spain: mutation analysis and clinical correlations

Autor: Elena Aibar, Eugenia Monros, Pilar Poo, Ignacio Canós, Mercè Pineda, Judith Armstrong

Publikováno v: BRAIN & DEVELOPMENT
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Rett syndrome (RTT) is an X-linked neurodevelopmental disease that affects girls almost exclusively. In a high proportion of patients the disease is caused by de novo mutations at the MECP2 gene, encoding methyl-CpG-binding protein 2. With the aim to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2353af113c82de455130b15f013141e4
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14161