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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Bibliographic Details
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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