Associated Papers
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Diallo M et al.
International Journal of Molecular Sciences, 2024
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH et al.
Investigative Ophthalmology & Visual Science, 2023
37707835 (PubMed )
Supplement: iovs-64-12-26_s001.xlsx › Feuil2
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.
Kruijt CC et al.
Scientific Reports, 2021
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.
Schidlowski L et al.
Frontiers in Genetics, 2020
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