FIGURE SUMMARY
Title

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Authors
Burrage, L.C., Reynolds, J.J., Baratang, N.V., Phillips, J.B., Wegner, J., McFarquhar, A., Higgs, M.R., Christiansen, A.E., Lanza, D.G., Seavitt, J.R., Jain, M., Li, X., Parry, D.A., Raman, V., Chitayat, D., Chinn, I.K., Bertuch, A.A., Karaviti, L., Schlesinger, A.E., Earl, D., Bamshad, M., Savarirayan, R., Doddapaneni, H., Muzny, D., Jhangiani, S.N., Eng, C.M., Gibbs, R.A., Bi, W., Emrick, L., Rosenfeld, J.A., Postlethwait, J., Westerfield, M., Dickinson, M.E., Beaudet, A.L., Ranza, E., Huber, C., Cormier-Daire, V., Shen, W., Mao, R., Heaney, J.D., Orange, J.S., University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola, D., Yamamoto, G.L., Baratela, W.A.R., Butler, M.G., Ali, A., Adeli, M., Cohn, D.H., Krakow, D., Jackson, A.P., Lees, M., Offiah, A.C., Carlston, C.M., Carey, J.C., Stewart, G.S., Bacino, C.A., Campeau, P.M., Lee, B.
Source
Full text @ Am. J. Hum. Genet.

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Acknowledgments