Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

  1. Lines, M.A.
  2. Huang, L.
  3. Schwartzentruber, J.
  4. Douglas, S.L.
  5. Lynch, D.C.
  6. Beaulieu, C.
  7. Guion-Almeida, M.L.
  8. Zechi-Ceide, R.M.
  9. Gener, B.
  10. Gillessen-Kaesbach, G.
  11. Nava, C.
  12. Baujat, G.
  13. Horn, D.
  14. Kini, U.
  15. Caliebe, A.
  16. Alanay, Y.
  17. Utine, G.E.
  18. Lev, D.
  19. Kohlhase, J.
  20. Grix, A.W.
  21. Lohmann, D.R.
  22. Hehr, U.
  23. Böhm, D.
  24. Majewski, J.
  25. Bulman, D.E.
  26. Wieczorek, D.
  27. Boycott, K.M.
  28. Show all authors +
Journal:
American Journal of Human Genetics

ISSN: 0002-9297,  1537-6605

Year of publication: 2012

Volume: 90

Issue: 2

Pages: 369-377

Type: Article

DOI: 10.1016/J.AJHG.2011.12.023 GOOGLE SCHOLAR lock_openOpen access editor

Sustainable development goals

Data source: Scopus