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

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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Main Authors: Bury, L, Megy, K, Stephens, JC, Grassi, L, Greene, D, Gleadall, N, Althaus, K, Allsup, D, Bariana, TK, Bonduel, M, Butta, NV, Collins, P, Curry, N, Deevi, SVV, Downes, K, Duarte, D, Elliott, K, Falcinelli, E, Furie, B, Keeling, D, Lambert, MP, Linger, R, Mangles, S, Mapeta, R, Millar, CM, Penkett, C, Perry, DJ, Stirrups, KE, Turro, E, Westbury, SK, Wu, J, Nihr BioResource, Gomez, K, Freson, K, Ouwehand, WH, Gresele, P, Simeoni, I
Format: Journal article
Language:English
Published: Wiley 2019

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