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Published in 2018 at "Documenta Ophthalmologica"
DOI: 10.1007/s10633-018-9665-7
Abstract: PurposeMutation of the CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, has recently been associated with late-onset, non-syndromic retinal dystrophy. Herein we describe the multimodal imaging, immunological and systemic features of an adult with compound…
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Keywords:
non syndromic;
syndromic retinal;
cln3;
retinal dystrophy ... See more keywords