Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6972977/
https://www.ncbi.nlm.nih.gov/pubmed/31562665
http://dx.doi.org/10.1002/humu.23927

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