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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;
[...]
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
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- 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; [...]
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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