https://orcid.org/0000-0003-2584-4894
References
- Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA et al. A comprehensive analysis of choroideremia: from genetic characterization to clinical practice. PLoS One 2016; 11: e0151943. doi:10.1371/journal.pone.0151943.
- Jauregui R, Park KS, Tanaka AJ et al. Spectrum of disease severity and phenotype in choroideremia carriers. Am J Ophthalmol 2019; 207: 77–86. doi:10.1016/j.ajo.2019.06.002.
- Tsang SH, Sharma T. X-linked choroideremia. Adv Exp Med Biol 2018; 1085: 37–42.
- Battaglia Parodi M, Arrigo A, MacLaren RE et al. Vascular alterations revealed with optical coherence tomography angiography in patients with choroideremia. Retina 2019; 39: 1200–1205. doi:10.1097/IAE.0000000000002118.
- Merry DE, Lesko JG, Sosnoski DM et al. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet 1989; 45: 530–540.
- Preising MN, Wegscheider E, Friedburg C et al. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. Ophthalmology 2009; 116: 1201–1209. doi:10.1016/j.ophtha.2009.01.016.
- Wegscheider E, Preising MN, Lorenz B. Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data. Graefes Arch Clin Exp Ophthalmol 2004; 242: 501–511. doi:10.1007/s00417-004-0891-1.
- Iossa S, Costa V, Corvino V et al. Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Mol Cytogenet 2015; 8: 18. doi:10.1186/s13039-015-0120-0.
- Liang S, Jiang N, Li S et al. A maternally inherited 8.05 Mb Xq21 deletion associated with choroideremia, deafness, and mental retardation syndrome in a male patient. Mol Cytogenet 2017; 10: 23. doi:10.1186/s13039-017-0324-6.