Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.
Owen M SiggsEmmanuelle SouzeauJamie E CraigPublished in: Ophthalmic genetics (2019)
Our results implicate ASPH-mediated hydroxylation in the formation of FBN1/LTBP2 microfibril bundles and competent ciliary zonules.