Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22126410
Abstract: Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically… read more here.
Keywords: dystrophy; rod dystrophy; cod cord; cone rod ... See more keywords