OBO ID: DOID:0070299

Citations

(1 total)

Term: multiple epiphyseal dysplasia 5

Pettersson, M., Vaz, R., Hammarsjö, A., Eisfeldt, J., Carvalho, C.M.B., Hofmeister, W., Tham, E., Horemuzova, E., Voss, U., Nishimura, G., Klintberg, B., Nordgren, A., Nilsson, D., Grigelioniene, G., Lindstrand, A. (2018) Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human Mutation. 39(10):1456-1467