REFERENCES
- Nathans J, Davenport CM, Maumenee IH, et al. Molecular genetics of human blue cone monochromacy. Science 1989 Aug 25;245(4920):831–838.
- Gardner JC, Michaelides M, Holder GE, et al. Blue cone monochromacy: causative mutations and associated phenotypes. Mol Vis 2009;15:876–884.
- Joergensen AL, Philip J, Raskind WH, Matsushita M, Christensen B, Dreyer V, Motulsky AG. Different patterns of X inactivation in MZ twins discordant for red-green color vision deficiency. Am J Hum Gen 1992;51:291–298.
- Orstavik KH. X chromosome inactivation in clinical practice. Hum Genet 2009 Sep;126(3):363–373.
- Weiss AH, Biersdorf WR. Blue cone monochromatism. J Pediatr Ophthalmol Strabismus 1989 Sep–Oct;26(5):218–223.
- Nathans J, Maumenee IH, Zrenner E, et al. Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet 1993 Nov;53(5):987–1000.
- Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992 Dec;51(6):1229–1239.
- Henderson RH, Mackay DS, Li Z, et al. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. Br J Ophthalmol 2011 Jun;95(6):811–817.
- Seemann N, Selby K, McAdam L, et al. Symptomatic dystrophinopathies in female children. Neuromuscul Disord 2011 Mar;21(3):172–177.