A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay COLD SPRING HARBOR MOLECULAR CASE STUDIES Velez, G., Bassuk, A. G., Schaefer, K. A., Brooks, B., Gakhar, L., Mahajan, M., Kahn, P., Tsang, S. H., Ferguson, P. J., Mahajan, V. B. 2018; 4 (3)

View details for DOI 10.1101/mcs.a002519

View details for Web of Science ID 000450956600006