First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
Author:
Funder
Saint Joseph University
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0677-7.pdf
Reference21 articles.
1. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936;11(61):1–8.
2. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1946;21(105):52–4.
3. Kleijer WJ, Laugel V, Berneburg M, Nardo T, Fawcett H, Gratchev A, et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum. Cockayne syndrome and trichothiodystrophy DNA Repair. 2008;7(5):744–50.
4. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. 1992 Jan 1;42(1):68–84.
5. Gandolfi A, Horoupian D, Rapin I, DeTeresa R, Hyams V. Deafness in Cockayne’s syndrome: morphological, morphometric, and quantitative study of the auditory pathway. Ann Neurol. 1984;15(2):135–43.
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome;Molecular Biology Reports;2024-02-27
2. Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants;Aging;2022-06-22
3. Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations;Orphanet Journal of Rare Diseases;2022-03-05
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