Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

por Kessler, K, Falk, N, Wunderlich, I, Fröhlich, M, Hauer, N, Gießl, A, Brandstätter, JH, Sticht, H, Ekici, AB, Uebe, S, Seemanová, E, Reis, A, Roepman, R, Thiel, C
Publicado 2015