Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling of the cytoskeleton, leading to impaired platelet...

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Bibliographic Details
Main Authors: Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Format: Article
Language:English
Published: Nature Publishing Group 2018-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-018-06713-0

Internet

https://doi.org/10.1038/s41467-018-06713-0

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