Protas et al., 2017 - Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Human molecular genetics   26:3630-3638 Full text @ Hum. Mol. Genet.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
anterior segment dysgenesis Df(chr14:nccr.pitx2.5,nccr.pitx2.11)mw710/mw710 standard conditions