Associated Papers
Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
Kolawole OU et al.
Molecular Vision, 2023
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Oh JK et al.
Orphanet Journal of Rare Diseases, 2022
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V et al.
International Journal of Molecular Sciences, 2021
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Dias MS et al.
Molecular Vision, 2017
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N et al.
Human Molecular Genetics, 2016
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