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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)Article de revue -
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
(Genetics in Medicine. vol. 22, n° 10, pp. 1613-1622, 2020-10-01)Article de revue -
Dopachrome tautomerase variants in patients with oculocutaneous albinism
(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
(Pigment Cell & Melanoma research. vol. 34, n° 1, pp. 132-135, 2021-01)Article de revue -
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
(Journal of Medical Genetics. vol. 59, n° 5, pp. 417-427, 2022-05-01)Article de revue