A Novel EPAS1/HIF2A germline mutation in a Congenital Polycythemia with Paraganglioma

Congenital polycythemias have diverse etiologies, including mutations in the hypoxia sensing pathway. These include HIF2A at exon 12, VHL gene (Chuvash polycythemia), and PHD2 mutations, which in one family was also associated with recurrent pheochromocytoma/paraganglioma (PHEO/PGL). Over the past t...

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Detalhes bibliográficos
Principais autores: Lorenzo, Felipe R., Yang, Chunzhang, Fui, Mark Ng Tang, Vankayalapati, Hariprasad, Zhuang, Zhengping, Huynh, Thanh, Grossmann, Mathis, Pacak, Karel, Prchal, Josef T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570726/
https://ncbi.nlm.nih.gov/pubmed/23090011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-012-0967-z
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