Article
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Human mutation - 1 Jan 2020
Bury Loredana, Megy Karyn, Stephens Jonathan C, Grassi Luigi, Greene Daniel, Gleadall Nick, Althaus Karina, Allsup David, Bariana Tadbir K, Bonduel Mariana, Butta Nora V, Collins Peter, Curry Nicola, Deevi Sri V V, Downes Kate, Duarte Daniel, Elliott Kim, Falcinelli Emanuela, Furie Bruce, Keeling David, Lambert Michele P, Linger Rachel, Mangles Sarah, Mapeta Rutendo, Millar Carolyn M, Penkett Christopher, Perry David J, Stirrups Kathleen E, Turro Ernest, Westbury Sarah K, Wu John, BioResource Nihr, Gomez Keith, Freson Kathleen, Ouwehand Willem H, Gresele Paolo, Simeoni Ilenia
Abstract excerpt
The heterogeneous manifestations of MYH9-related disorder (MYH9-RD), characterized by macrothrombocytopenia, Döhle-like inclusion bodies in leukocytes, bleeding of variable severity with, in some cases, ear, eye, kidney, and liver involvement, make the diagnosis for these patients still challenging in clinical practice. We collected phenotypic data and analyzed the genetic variants in more than 3,000 patients...
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