SpitzMASeveracFObringerC, et al. Diagnostic and severity scores for Cockayne syndrome. Orphanet J Rare Dis. 2021;16(1):63. doi:10.1186/s13023-021-01686-8.
2.
LaugelV.Cockayne syndrome. In: AdamMPBickSMirzaaGM, et al., eds. Gene Reviews. Seattle, WA: University of Washington; 2000, NBK1342.
3.
KarikkinethACScheibye-KnudsenMFivensonECroteauDLBohrVA.Cockayne syndrome: clinical features, model systems and pathways. Ageing Res Rev. 2017;33:3-17. doi:10.1016/j.arr.2016.08.002.
4.
LaugelV.Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev. 2013;134(5-6):161-170. doi:10.1016/j.mad.2013.02.006.
5.
HiewTMLimKW.Cockayne’s syndrome—difficulties with early diagnosis. Singapore Med J. 1990;31(6):558-563.
6.
WilsonBTStarkZSuttonRE, et al. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med. 2016;18(5):483-493. doi:10.1038/gim.2015.110.
7.
NanceMABerrySA.Cockayne syndrome: review of 140 cases. Am J Med Genet. 1992;42(1):68-84. doi:10.1002/ajmg.1320420115.
8.
SinhaJKGhoshSRaghunathM.Progeria: a rare genetic premature ageing disorder. Indian J Med Res. 2014;139(5):667-674.
9.
KoobMLaugelVDurandM, et al. Neuroimaging in Cockayne syndrome. AJNR Am J Neuroradiol. 2010;31(9):1623-1630. doi:10.3174/ajnr.A2135.
10.
AdachiMKawanamiTOhshimaFHosoyaT.MR findings of cerebral white matter in Cockayne syndrome. Magn Reson Med Sci. 2006;5(1):41-45. doi:10.2463/mrms.5.41.
11.
VessoniATGuerraCCCKajitaniGSNascimentoLLSGarciaCCM. Cockayne syndrome: the many challenges and approaches to understand a multifaceted disease. Genet Mol Biol. 2020;43(suppl 1):e20190085. doi:10.1590/1678-4685-GMB-2019-0085.
12.
LivingstonJHStivarosSWarrenDCrowYJ.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes. Dev Med Child Neurol. 2014;56(7):612-626. doi:10.1111/dmcn.12359.
13.
GonçalvesFGCascheraLTeixeiraSR, et al. Intracranial calcifications in childhood: part 1. Pediatr Radiol. 2020;50(10):1424-1447. doi:10.1007/s00247-020-04721-1.
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