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Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype

Kolawole, OU; Gregory-Evans, CY; Bikoo, R; Huang, AZ; Gregory-Evans, K

Gregory-Evans, K (通讯作者),Univ British Columbia, Dept Ophthalmol & Visual Sci, 2550 Willow St, Vancouver, BC V5Z 3N9, Canada.

MOLECULAR VISION, 2023; 29 (): 329

Abstract

Purpose: Autosomal recessive cone and cone-rod dystrophies (CD/CRD) are inherited forms of vison loss. Here, we report on and correlate the clinical p......

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