Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
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| Title: | Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity. |
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| Authors: | Holt, Richard1 (AUTHOR), Goudie, David2 (AUTHOR), Verde, Alejandra Damián3,4 (AUTHOR), Gardham, Alice5 (AUTHOR), Ramond, Francis6 (AUTHOR), Putoux, Audrey7,8 (AUTHOR), Sarkar, Ajoy9 (AUTHOR), Clowes, Virginia5 (AUTHOR), Clayton-Smith, Jill10,11 (AUTHOR), Banka, Siddharth10,11 (AUTHOR), Cortazar Galarza, Laura12 (AUTHOR), Thuret, Gilles13 (AUTHOR), Ubeda Erviti, Marta12 (AUTHOR), Zurutuza Ibarguren, Ane14 (AUTHOR), Sáez Villaverde, Raquel15 (AUTHOR), Tamayo Durán, Alejandra3,4 (AUTHOR), Ayuso, Carmen3,4 (AUTHOR), Bax, Dorine A1 (AUTHOR), Plaisancie, Julie16,17 (AUTHOR), Corton, Marta3,4 (AUTHOR) |
| Source: | Ophthalmic Genetics. Dec2022, Vol. 43 Issue 6, p809-816. 8p. |
| Database: | Academic Search Ultimate |
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