Associated Papers
Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families.
El Khair K et al.
Molecular Biology Reports, 2025
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
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V et al.
International Journal of Molecular Sciences, 2021
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
32783370 (PubMed )
Supplement: AJMG-184-762-s001.docx
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Dias MS et al.
Molecular Vision, 2017
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