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.
Zeitschrift:
Journal of Medical Genetics

ISSN: 1468-6244,  0022-2593

Datum der Publikation: 2024

Art: Artikel

DOI: 10.1136/JMG-2024-109970 GOOGLE SCHOLAR lock_openOpen Access editor
Datenquelle: Scopus