Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics
The association of mutations in the PHD2 protein of the hypoxia-sensing pathway and erythrocytosis has only been established in the last decade. Here we report the case of a novel PHD2 gene mutation in a patient with erythrocytosis and summarize all reported cases to date. Case Report. A 55-year-old...
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| Main Authors: | Rachel Wilson, Nausheen Syed, Prabodh Shah |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2016-01-01
|
| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2016/6373706 |
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