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

Ano de publicación: 2024

Tipo: Artigo

DOI: 10.1136/JMG-2024-109970 GOOGLE SCHOLAR lock_openAcceso aberto editor
Fonte de datos: Scopus