Autor: Seese, S. E., Reis, L. M., Schneider, A., Bardakjian, T., Semina, E. V.

Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large deletions of 16p11.2, 3p14 or 19p13.11 regions involvin…