Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

  1. Holt, R.
  2. Goudie, D.
  3. Verde, A.D.
  4. Gardham, A.
  5. Ramond, F.
  6. Putoux, A.
  7. Sarkar, A.
  8. Clowes, V.
  9. Clayton-Smith, J.
  10. Banka, S.
  11. Cortazar Galarza, L.
  12. Thuret, G.
  13. Ubeda Erviti, M.
  14. Zurutuza Ibarguren, A.
  15. Sáez Villaverde, R.
  16. Tamayo Durán, A.
  17. Ayuso, C.
  18. Bax, D.A.
  19. Plaisancie, J.
  20. Corton, M.
  21. Chassaing, N.
  22. Calvas, P.
  23. Ragge, N.K.
Revue:
Ophthalmic genetics

ISSN: 1744-5094

Année de publication: 2022

Volumen: 43

Número: 6

Pages: 809-816

Type: Article

DOI: 10.1080/13816810.2022.2144905 GOOGLE SCHOLAR lock_openAccès ouvert editor
La source de données: Scopus