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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:JAMA Ophthalmol
Main Authors: 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
Idioma:Inglês
Publicado em: American Medical Association 2020
Assuntos:
Original Investigation
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados