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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Journal Article published 14 Nov 2017 in Scientific Reports volume 7 issue 1

Authors: A. Hammarsjö, Z. Wang, R. Vaz, F. Taylan, M. Sedghi, K. M. Girisha, D. Chitayat, K. Neethukrishna, P. Shannon, R. Godoy, K. Gowrishankar, A. Lindstrand, J. Nasiri, M. Baktashian, P. T. Newton, L. Guo, W. Hofmeister, M. Pettersson, A. S. Chagin, G. Nishimura, L. Yan, N. Matsumoto, A. Nordgren, N. Miyake, G. Grigelioniene, S. Ikegawa