De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Brain malformations are individually rare but collectively common causes of developmental disabilities(1–3). Many forms occur sporadically and have reduced reproductive fitness, pointing towards a causative role for de novo mutations(4,5). Here we report our studies of Baraitser-Winter syndrome, a w...

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Detalles Bibliográficos
Autores principales: Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O’Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677859/
https://www.ncbi.nlm.nih.gov/pubmed/22366783
http://dx.doi.org/10.1038/ng.1091

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677859/
https://www.ncbi.nlm.nih.gov/pubmed/22366783
http://dx.doi.org/10.1038/ng.1091

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