• Media type: E-Article
  • Title: Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
  • Contributor: Burrage, Lindsay C.; Reynolds, John J.; Baratang, Nissan Vida; Phillips, Jennifer B.; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R.; Christiansen, Audrey E.; Lanza, Denise G.; Seavitt, John R.; Jain, Mahim; Li, Xiaohui; Parry, David A.; Raman, Vandana; Chitayat, David; Chinn, Ivan K.; Bertuch, Alison A.; Karaviti, Lefkothea; Schlesinger, Alan E.; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; [...]
  • Published: Elsevier BV, 2019
  • Published in: The American Journal of Human Genetics, 104 (2019) 3, Seite 422-438
  • Language: English
  • DOI: 10.1016/j.ajhg.2019.01.007
  • ISSN: 0002-9297
  • Origination:
  • Footnote:
  • Access State: Open Access