Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

Pierrache, L.H.M.; Kimchi, A.; Ratnapriya, R.; Roberts, L.; Astuti, G.D.N.; Obolensky, A.; ... ; Cremers, F.P.M. (2017)

Article / Letter to editor

• All authors: Pierrache, L.H.M.; Kimchi, A.; Ratnapriya, R.; Roberts, L.; Astuti, G.D.N.; Obolensky, A.; Beryozkin, A.; Tjon-Fo-Sang, M.J.H.; Schuil, J.; Klaver, C.C.W.; Bongers, E.M.H.F.; Haer-Wigman, L.; Schalij, N.; Breuning, M.H.; Fischer, G.M.; Banin, E.; Ramesar, R.S.; Swaroop, A.; Born, L.I. van den; Sharon, D.; Cremers, F.P.M.
• Date: 2017-07-31
• Journal: Ophthalmology: Journal of The American Academy of Ophthalmology
• Volume: 124
• Issue: 7
• Pages: 992 - 1003
• DOI: doi:10.1016/j.ophtha.2017.03.010