Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

  1. Johari, M.
  2. Topf, A.
  3. Folland, C.
  4. Duff, J.
  5. Dofash, L.
  6. Marti, P.
  7. Robertson, T.
  8. Vilchez, J.
  9. Cairns, A.
  10. Harris, E.
  11. Marini-Bettolo, C.
  12. Hundallah, K.
  13. Alhashem, A.M.
  14. Al-Owain, M.
  15. Maroofian, R.
  16. Ravenscroft, G.
  17. Straub, V.
Revista:
Journal of Medical Genetics

ISSN: 1468-6244,  0022-2593

Any de publicació: 2024

Tipus: Article

DOI: 10.1136/JMG-2024-109970 GOOGLE SCHOLAR lock_openAccés obert editor
Font de les dades: Scopus