GeneticsbioRxivPreprint
Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations
Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke…·Nataliya Di Donato
The paper reports a new clinical syndrome linked to ACTB mutations, characterized by thrombocytopenia, microcephaly, and developmental disability, and identifies altered cytoskeletal interactions in affected cells.
DOI 10.1101/303909