Vascular Changes in the Retina and Choroid of Patients With EPAS1 Gain-of-Function Mutation Syndrome

IMPORTANCE: Patients with the EPAS1 gain-of-function mutation syndrome (or Pacak-Zhuang syndrome) present with multiple paragangliomas or pheochromocytomas, duodenal somatostatinoma, polycythemia, headaches, and sometimes diminished visual acuity at an early age. The characteristic phenotype and kno...

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Publicado en:JAMA Ophthalmol
Autores principales: Dmitriev, Pauline M., Wang, Herui, Rosenblum, Jared S., Prodanov, Tamara, Cui, Jing, Pappo, Alberto S., Gilbert, Mark R., Lutty, Gerard A., Chan, Chi-Chao, Chew, Emily Y., Pacak, Karel, Zhuang, Zhengping
Formato: Artigo
Lenguaje:Inglês
Publicado: American Medical Association 2020
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Original Investigation
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042897/
https://ncbi.nlm.nih.gov/pubmed/31876943
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2019.5244
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