Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

  1. Frints, S.G.M.
  2. Hennig, F.
  3. Colombo, R.
  4. Jacquemont, S.
  5. Terhal, P.
  6. Zimmerman, H.H.
  7. Hunt, D.
  8. Mendelsohn, B.A.
  9. Kordaß, U.
  10. Webster, R.
  11. Sinnema, M.
  12. Abdul-Rahman, O.
  13. Suckow, V.
  14. Fernández-Jaén, A.
  15. van Roozendaal, K.
  16. Stevens, S.J.C.
  17. Macville, M.V.E.
  18. Al-Nasiry, S.
  19. van Gassen, K.
  20. Utzig, N.
  21. Koudijs, S.M.
  22. McGregor, L.
  23. Maas, S.M.
  24. Baralle, D.
  25. Dixit, A.
  26. Wieacker, P.
  27. Lee, M.
  28. Lee, A.S.
  29. Engle, E.C.
  30. Houge, G.
  31. Gradek, G.A.
  32. Douglas, A.G.L.
  33. Longman, C.
  34. Joss, S.
  35. Velasco, D.
  36. Hennekam, R.C.
  37. Hirata, H.
  38. Kalscheuer, V.M.
  39. Show all authors +
Journal:
Human Mutation

ISSN: 1098-1004 1059-7794

Year of publication: 2019

Volume: 40

Issue: 12

Pages: 2270-2285

Type: Article

DOI: 10.1002/HUMU.23841 GOOGLE SCHOLAR