References
- Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O’Sullivan J, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012;44(3):338–42. doi:10.1038/ng.1084.
- Polvi A, Linnankivi T, Kivelä T, Herva R, Keating J, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, et al. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet. 2012;90(3):540–49. doi:10.1016/j.ajhg.2012.02.002.
- Gu P, Chang S.Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. Aging Cell. 2013;12(6):1100–09.
- Tolmie JL, Browne BH, McGettrick PM, Stephenson JB.A familial syndrome with coats’ reaction retinal angiomas, hair and nail defects and intracranial calcification. Eye (London, England). 1988;2(Pt 3):297–303. doi:10.1038/eye.1988.56.
- Crow YJ, McMenamin J, Haenggeli CA, Hadley D, Tirupathi S, Treacy E, Zuberi S, Browne B, Tolmie J, Stephenson J, et al. Coats’ plus: a progressive familial syndrome of bilateral Coats’ disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics. 2004;35(1):10–19. doi:10.1055/s-2003-43552.
- Briggs TA, GMH A-S, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A. 2008;146A(2):182–90. doi:10.1002/ajmg.a.32080.
- Miyake Y, Nakamura M, Nabetani A, Shimamura S, Tamura M, Yonehara S, Saito M, Ishikawa F. RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway. Mol Cell. 2009;36(2):193–206. doi:10.1016/j.molcel.2009.08.009.
- Surovtseva YV, Churikov D, Boltz KA, Song X, Lamb JC, Warrington R, Leehy K, Heacock M, Price CM, Shippen DE, et al. Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes. Mol Cell. 2009;36(2):207–18. doi:10.1016/j.molcel.2009.09.017.
- Gu P, Min J-N, Wang Y, Huang C, Peng T, Chai W, Chang S. CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion. Embo J. 2012;31(10):2309–21. doi:10.1038/emboj.2012.96.
- Peene G, Smets E, Legius E, Unilateral Coats’-like CC.disease and an intragenic deletion in the TERC gene: a case report. Ophthalmic Genet. 2018;39(2):247–50. doi:10.1080/13816810.2017.1401086.
- Gupta MP, Talcott KE, Kim DY, Agarwal S, Mukai S. Retinal findings and a novel TINF2 mutation in Revesz syndrome: clinical and molecular correlations with pediatric retinal vasculopathies. Ophthalmic Genet. 2017;38(1):51–60. doi:10.1080/13816810.2016.1275019.
- Fitzsimons RB, Gurwin EB, Bird AC.Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain. 1987;110(Pt 3):631–48.