Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene
(24 November, 2018)
Solene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, Christian Hamel, Sabine Defoort-Dhellemmes, Isabelle Drumare, Xavier Zanlonghi, Hélène Dollfus, Yaurama Perdomo, Dominique Bonneau, Jean-François Korobelnik, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Caroline Rooryck-Thambo, Fanny Morice-Picard, Clement Paya, Benoit Arveiler