REFERENCES
Calmels, N., Botta, E., Jia, N., Fawcett, H., Nardo, T., Nakazawa, Y.
(2018). Functional and clinical relevance of novel mutations in a large
cohort of patients with Cockayne syndrome. J Med Genet, 55 (5),
329-343. DOI:10.1136/jmedgenet-2017-104877
Colella, S., Nardo, T., Botta, E., Lehmann, A. R., & Stefanini, M.
(2000). Identical mutations in the CSB gene associated with either
Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma
pigmentosum. Hum Mol Genet, 9 (8), 1171-1175.
DOI:10.1093/hmg/9.8.1171
Briggs, B., James, K. N., Chowdhury, S., Thornburg, C., Farnaes, L.,
Dimmock, D. (2018). Novel Factor XIII variant identified through
whole-genome sequencing in a child with intracranial hemorrhage.Cold Spring Harb Mol Case Stud, 4 (6). DOI:10.1101/mcs.a003525
Farnaes, L., Hildreth, A., Sweeney, N.M., Clark, M.M., Chowdhury, S.,
Nahas, S., Cakicki, J.A., Benson, W., Kaplan, R.H., Kronick, R.,
Bainbridge, M.N., Friedman, J., Gold, J.J., Ding, Y., Veeraraghavan, N.,
Dimmock, D., Kingsmore, S.F. (2018) Rapid whole-genome sequencing
decreases infant morbidity and cost of hospitalization. NPJ Genom
Med 4 (3),10. DOI: 10.1038/s41525-018-0049-4.
Gillet, L. C., & Schäer, O. D. (2006). Molecular mechanisms of
mammalian global genome nucleotide excision repair. Chem Rev,
106 (2), 253-276. DOI:10.1021/cr040483f
Greenhaw, G. A., Hebert, A., Duke-Woodside, M. E., Butler, I. J., Hecht,
J. T., Cleaver, J. E. (1992). Xeroderma pigmentosum and Cockayne
syndrome: overlapping clinical and biochemical phenotypes. Am J
Hum Genet, 50 (4), 677-689.
Hanawalt, P. C., & Spivak, G. (2008). Transcription-coupled DNA repair:
two decades of progress and surprises. Nat Rev Mol Cell Biol,
9 (12), 958-970. DOI:10.1038/nrm2549
Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G., Kurimasa, A.,
Oshimura, M. (2004). Complete absence of Cockayne syndrome group B gene
product gives rise to UV-sensitive syndrome but not Cockayne syndrome.Proc Natl Acad Sci U S A, 101 (43), 15410-15415. DOI:10.1073/pnas.0404587101
Kashiyama, K., Nakazawa, Y., Pilz, D. T., Guo, C., Shimada, M., Sasaki,
K. (2013). Malfunction of nuclease ERCC1-XPF results in diverse clinical
manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and
Fanconi anemia. Am J Hum Genet, 92 (5), 807-819. DOI:10.1016/j.ajhg.2013.04.007
Kleijer, W. J., Laugel, V., Berneburg, M., Nardo, T., Fawcett, H.,
Gratchev, A. (2008). Incidence of DNA repair deficiency disorders in
western Europe: Xeroderma pigmentosum, Cockayne syndrome and
trichothiodystrophy. DNA Repair (Amst), 7 (5), 744-750.
DOI:10.1016/j.dnarep.2008.01.014
Kou, Y., Shboul, M., Wang, Z., Shersheer, Q., Lyu, Z., Liu, P. (2018).
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne
syndrome with postnatal growth failure and early death: A case report
and brief literature review. Medicine (Baltimore), 97 (33),
e11636. DOI:10.1097/MD.0000000000011636
Laugel, V. Cockayne Syndrome. 2000 Dec 28 [Updated 2012 Jun 14]. In:
Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®
[Internet]. Seattle (WA): University of Washington, Seattle;
1993-2019. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1342/
Laugel, 2008, Dalloz, C.,Tobias, E.S., Tolmie, J.L., Martin-Coignard, D,
Drouin-Garraud, V., Valayannopoulos, V., Sarasin, A., Dollfus, H.
(2008). Cerebro-oculo-facio-skeletal syndrome: three additional cases
with CSB mutations, new diagnostic criteria and an approach to
investigation. J Med Genet, 45 (9), 564-571. DOI:10.1136/jmg.2007.057141
Laugel, V., Dalloz, C., Durand, M., Sauvanaud, F., Kristensen, U.,
Vincent, M. C. (2010). Mutation update for the CSB/ERCC6 and CSA/ERCC8
genes involved in Cockayne syndrome. Hum Mutat, 31 (2), 113-126.
DOI:10.1002/humu.21154
Mori, T., Yousefzadeh, M. J., Faridounnia, M., Chong, J. X., Hisama, F.
M., Hudgins, L. (2018). ERCC4 variants identified in a cohort of
patients with segmental progeroid syndromes. Hum Mutat, 39 (2),
255-265. DOI:10.1002/humu.23367
Nance, M., Berry, S., (1992). Cockayne Syndrome: Review of 140 Cases.Am J Med Genet , 42 (1), 68-84. DOI:
10.1002/ajmg.1320420115
Niedernhofer, L. J., Garinis, G. A., Raams, A., Lalai, A. S., Robinson,
A. R., Appeldoorn, E. (2006). A new progeroid syndrome reveals that
genotoxic stress suppresses the somatotroph axis. Nature,
444 (7122), 1038-1043. DOI:10.1038/nature05456
Scharer, O. (2013). Nucleotide excision repair in eukaryotes. Cold
Spring Harb Perspect Biol , (10):a012609.
DOI:10.1101/cshperspect.a012609
Vélez-Cruz, R., Zadorin, A. S., Coin, F., & Egly, J. M. (2013). Sirt1
suppresses RNA synthesis after UV irradiation in combined xeroderma
pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. Proc Natl
Acad Sci U S A, 110 (3), E212-220.
DOI:10.1073/pnas.1213076110
Wilson, B.T., Stark, Z., Sutton, R. E., Danda, S., Ekbote, A.V. Elsayed,
S.M., Gibson, L., Goodship, J.A., Jackson, A.P. Keng, W.T., King, M.D.,
McCann, E., Motojima, T., Murray, J.E., Omata, T., Pilz, D., Pope, K.,
Sugita, K., White, S.M., Wilson, I.J. (2016) The Cockayne Syndrome
Natural History (CoSyNH) study: clinical findings in 102 individuals and
recommendations for care. Genet Med 18I (5):483-493. DOI:10.1038/gim.2015.110