Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features
Angelo M Taveira-DaSilva, Thomas C Markello, David E Kleiner, Amanda M Jones, Catherine Groden, Ellen Macnamara, Tadafumi Yokoyama, William A Gahl, Bernadette R Gochuico, Joel Moss
Journal of Medical Genetics Nov 2019, 56 (11) 778-782; DOI: 10.1136/jmedgenet-2018-105560