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.

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DOI: 10.1080/13816810.2022.2144905 GOOGLE SCHOLAR lock_openOpen access editor

Data source: Scopus