Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

  1. McMillan, H.J.
  2. Telegrafi, A.
  3. Singleton, A.
  4. Cho, M.T.
  5. Lelli, D.
  6. Lynn, F.C.
  7. Griffin, J.
  8. Asamoah, A.
  9. Rinne, T.
  10. Erasmus, C.E.
  11. Koolen, D.A.
  12. Haaxma, C.A.
  13. Keren, B.
  14. Doummar, D.
  15. Mignot, C.
  16. Thompson, I.
  17. Velsher, L.
  18. Dehghani, M.
  19. Vahidi Mehrjardi, M.Y.
  20. Maroofian, R.
  21. Tchan, M.
  22. Simons, C.
  23. Christodoulou, J.
  24. Martín-Hernández, E.
  25. Guillen Sacoto, M.J.
  26. Henderson, L.B.
  27. McLaughlin, H.
  28. Molday, L.L.
  29. Molday, R.S.
  30. Yoon, G.
  31. Erakutsi egile guztiak +
Aldizkaria:
Orphanet Journal of Rare Diseases

ISSN: 1750-1172

Argitalpen urtea: 2018

Alea: 13

Zenbakia: 1

Mota: Artikulua

DOI: 10.1186/S13023-018-0825-3 GOOGLE SCHOLAR lock_openSarbide irekia editor
Datuen iturria: Scopus