Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a genetic basis is strongly supported by C1M presence in...

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Detalles Bibliográficos
Autores principales: Provenzano, Aldesia, La Barbera, Andrea, Scagnet, Mirko, Pagliazzi, Angelica, Traficante, Giovanna, Pantaleo, Marilena, Tiberi, Lucia, Vergani, Debora, Kurtas, Nehir Edibe, Guarducci, Silvia, Bargiacchi, Sara, Forzano, Giulia, Artuso, Rosangela, Palazzo, Viviana, Kura, Ada, Giordano, Flavio, di Feo, Daniele, Mortilla, Marzia, De Filippi, Claudio, Mattei, Gianluca, Garavelli, Livia, Giusti, Betti, Genitori, Lorenzo, Zuffardi, Orsetta, Giglio, Sabrina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981314/
https://www.ncbi.nlm.nih.gov/pubmed/33337535
http://dx.doi.org/10.1007/s00439-020-02231-6

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