ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To d...

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Detalles Bibliográficos
Autores principales: Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812896/
https://www.ncbi.nlm.nih.gov/pubmed/29220674
http://dx.doi.org/10.1016/j.ajhg.2017.11.006

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