The Clinical Spectrum and Disease Course of DRAM2 Retinopathy

Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described...

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Detalles Bibliográficos
Autores principales: Krašovec, Tjaša, Volk, Marija, Šuštar Habjan, Maja, Hawlina, Marko, Vidović Valentinčič, Nataša, Fakin, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266529/
https://www.ncbi.nlm.nih.gov/pubmed/35806404
http://dx.doi.org/10.3390/ijms23137398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266529/
https://www.ncbi.nlm.nih.gov/pubmed/35806404
http://dx.doi.org/10.3390/ijms23137398

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