Akshay Narayan, Laura J. Taylor, Sian Sperring, Morag Shanks, Penny Clouston, Robert E. MacLaren, Jasmina Cehajic-Kapetanovic
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引用次数: 0
Abstract
Danon disease is a rare, multisystemic X-linked dominant disorder caused by variants in the LAMP2 gene. It can be associated with retinal degeneration, but this is not well characterized. Here we d...
期刊介绍:
Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.