Slavotinek, A., Misceo, D., Htun, S., Mathisen, L., Frengen, E., Foreman, M., Hurtig, J.E., Enyenihi, L., Sterrett, M.C., Leung, S.W., Schneidman-Duhovny, D., Estrada-Veras, J., Duncan, J.L., Haaxma, C.A., Kamsteeg, E.J., Xia, V., Beleford, D., Si, Y., Douglas, G., Treidene, H.E., van Hoof, A., Fasken, M.B., Corbett, A.H. (2020) Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. Human molecular genetics. 29:2218-2239
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