Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eunkyung Lee, Jieun Soo, Hye Ran Lee, Denise P Cavalcanti, Outi Mäkitie, Helena Valta, Katta M. Girisha, Chung Lee, Kausthubham Neethukrishna, Gandham S. Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R. Phadke, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Martin HiggsGrant Stewart, Eunyoung Jung, Myeong-Sok Lee, Jong Hoon Park, Eun A. Lee, Hongtae Kim, Kyungjae Myung, Woosung Jeon, Kyoungyeul Lee, Dongsup Kim, Ok-Hwa Kim, Murim Choi, Han-Woong Lee, Younghwan Kim, Tae-Joon Cho

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)
161 Downloads (Pure)
  • 7 Citations
  • 1 Article
Filter
Article

Search results

  • 2019

    Biallelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

    Burrage, L., Reynolds, J., Baratang, N., Phillips, J., Wegner, J., McFarquhar, A., Higgs, M., Christiansen, A., Lanza, D., Seavitt, J., Jain, M., Li, X., Parry, D., Raman, V., Chitayat, D., Chinn, I., Bertuch, A., Karaviti, L., Schlesinger, A., Earl, D., & 39 othersBamshad, M., Savarirayan, R., Doddapaneni, H., Muzny, D., Jhangiani, S., Eng, C., Gibbs, R., Bi, W., Emrick, L., Rosenfeld, J., Postlethwait, J., Westerfield, M., Dickinson, M., Beaudet, A., Ranza, E., Huber, C., Cormier-Daire, V., Shen, W., Mao, R., Heaney, J., Orange, J., Undiagnosed Diseases Network, Bertola, D., Yamamoto, G., Baratela, W., Butler, M., Ali, A., Adeli, M., Cohn, D., Krakow, D., Jackson, A., Lees, M., Offiah, A., Carlston, C., Carey, J., Stewart, G., Bacino, C., Campeau, P. & Lee, B., 7 Mar 2019, In: American Journal of Human Genetics. 104, 3, p. 422-438 17 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    6 Citations (Scopus)
    198 Downloads (Pure)