Associated Papers
The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.
Brooks BP et al.
American Journal of Ophthalmology, 2026
Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency.
Liu K et al.
Clinical Genetics, 2023
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.
DeYoung C et al.
Ophthalmic Genetics, 2022
Select a paper to view details