Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

  1. Takeichi, T.
  2. Torrelo, A.
  3. Lee, J.Y.W.
  4. Ohno, Y.
  5. Lozano, M.L.
  6. Kihara, A.
  7. Liu, L.
  8. Yasuda, Y.
  9. Ishikawa, J.
  10. Murase, T.
  11. Rodrigo, A.B.
  12. Fernández-Crehuet, P.
  13. Toi, Y.
  14. Mellerio, J.
  15. Rivera, J.
  16. Vicente, V.
  17. Kelsell, D.P.
  18. Nishimura, Y.
  19. Okuno, Y.
  20. Kojima, D.
  21. Ogawa, Y.
  22. Sugiura, K.
  23. Simpson, M.A.
  24. McLean, W.H.I.
  25. Akiyama, M.
  26. McGrath, J.A.
  27. Montrer des auteurs +
Revue:
Journal of Investigative Dermatology

ISSN: 1523-1747 0022-202X

Année de publication: 2017

Volumen: 137

Número: 11

Pages: 2344-2353

Type: Article

DOI: 10.1016/J.JID.2017.06.028 GOOGLE SCHOLAR lock_openAccès ouvert editor