Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
por: Göbel, Theresa, et al.
Publicado: (2022) -
Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser–Winter Cerebrofrontofacial Syndrome
por: Nie, Kailai, et al.
Publicado: (2022) -
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
por: Dawidziuk, Mateusz, et al.
Publicado: (2022) -
Generalized epilepsy in Baraitser–Winter cerebrofrontofacial syndrome()
por: Climans, Seth Andrew, et al.
Publicado: (2017) -
Baraitser and Winter syndrome with growth hormone deficiency
por: Chentli, Farida, et al.
Publicado: (2014)