Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleAn unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.AuthorsUguen, Kevin; Redon, Sylvia; Rouault, Karen; Pensec, Marine; Benech, Caroline; Schutz, Sacha; Zanlonghi, Xavier; Nadjar, Yann; Le Maréchal, Cédric; Férec, Claude; Audebert‐Bellanger, SéverinePublicationAmerican Journal of Medical Genetics. Part A, 2024, Vol 194, Issue 5, p1ISSN1552-4825Publication typeArticleDOI10.1002/ajmg.a.63532