A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype

Katagiri S, Hayashi T, Gekka T, Tsuneoka H. A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype. Ophthalmic Genet. 2016 Jun 27:1-2.