Journal article
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
- Abstract:
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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 with a bleeding or platelet disorder. Patients were enrolled in the BRIDGE‐BPD and T...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, 5.2MB, Terms of use)
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- Publisher copy:
- 10.1002/humu.23927
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Funding
Bibliographic Details
- Publisher:
- Wiley
- Journal:
- Human Mutation More from this journal
- Volume:
- 41
- Issue:
- 1
- Pages:
- 277-290
- Publication date:
- 2019-10-15
- Acceptance date:
- 2019-09-25
- DOI:
- EISSN:
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1098-1004
- ISSN:
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1059-7794
- Pmid:
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31562665
Item Description
- Language:
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English
- Keywords:
- Pubs id:
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1090489
- Local pid:
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pubs:1090489
- Deposit date:
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2020-03-06
Terms of use
- Copyright holder:
- Bury et al.
- Copyright date:
- 2019
- Rights statement:
- © 2019 The Authors. Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License
- Licence:
- CC Attribution (CC BY)
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