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

Authors :: Richard Holt
David Goudie
Alejandra Damián Verde
Alice Gardham
Francis Ramond
Audrey Putoux
Ajoy Sarkar
Virginia Clowes
Jill Clayton-Smith
Siddharth Banka
Laura Cortazar Galarza
Gilles Thuret
Marta Ubeda Erviti
Ane Zurutuza Ibarguren
Raquel Sáez Villaverde
Alejandra Tamayo Durán
Carmen Ayuso
Dorine A Bax
Julie Plaisancie
Marta Corton
Nicolas Chassaing
Patrick Calvas
Nicola K Ragge
Source :: Ophthalmic Genetics. 43:809-816
Publication Year :: 2022
Publisher :: Informa UK Limited, 2022.

Subjects :: Ophthalmology
Pediatrics, Perinatology and Child Health
Genetics (clinical)

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