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Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography
Purpose: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of CYP2U1 related macular dystrophy associating bilateral macular telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed with complete multimodal imaging including o...
Autores principales: | El Matri, Khaled, Falfoul, Yousra, Habibi, Imen, Chebil, Ahmed, Schorderet, Daniel, El Matri, Leila |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618989/ https://www.ncbi.nlm.nih.gov/pubmed/34828401 http://dx.doi.org/10.3390/genes12111795 |
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