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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinismPerrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, et al.Ophthalmic Genetics|June 23, 2025
Genetic analysis of participants with foveal hypoplasiaRaphael Lejoyeux, Vincent Michaud, Hugo Le Boité, et al.The British Journal of Ophthalmology|November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndromePerrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, et al.International Journal of Molecular Sciences|August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of AlbinismModibo Diallo, Cécile Courdier, Elina Mercier, et al.Pageof 3