@misc{indiciae41e93c3de694, title = {Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction}, author = {Tiosano, D. and Baris Feldman, H. and Chen, A. and Hitzert, M. M. and Schueler, M. and Gulluni, F. and Wiesener, A. and Bergua, A. and Mory, A. and Copeland, B. and Gleeson, J. G. and Rump, P. and van Meer, H. and Sival, D. A. and Haucke, V. and Kriwinsky, J. and Knaup, K. X. and Reis, A. and Hauer, N. N. and Hirsch, E. and Roepman, R. and Pfundt, R. and Thiel, C. T. and Wiesener, M. S. and Aslanyan, M. G. and Buchner, D. A.}, year = {2018}, doi = {10.1101/488411}, url = {https://www.biorxiv.org/content/10.1101/488411v1}, note = {Source identifier: 10.1101/488411} }