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Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family
BACKGROUND: Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is a rare allelic condition with massive drusen in the posterior fundus caused by EFEMP1 gene mutation. Patients showed decreased vision when the lesion affected the macular area. At present, the treatment efficiency is n...
Autores principales: | Zhang, Kaiyan, Sun, Xuyang, Chen, Yingying, Zhong, Qionglei, Lin, Lin, Gao, Yuan, Hong, Fanlin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292057/ https://www.ncbi.nlm.nih.gov/pubmed/30541486 http://dx.doi.org/10.1186/s12886-018-0988-7 |
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