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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Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2018
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Materias: | |
Acceso en línea: | https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d |
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