Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene
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
British Journal of Ophthalmology Sep 2019, 103 (9) 1239-1247; DOI: 10.1136/bjophthalmol-2018-312729
