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Xeroderma pigmentosum-Cockayne syndrome complex.
Natale V, Raquer H. Natale V, et al. Orphanet J Rare Dis. 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2. Orphanet J Rare Dis. 2017. PMID: 28376890 Free PMC article. Review.
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). ...
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: …
Xeroderma pigmentosum and related disorders: examining the linkage between defective DNA repair and cancer.
Kraemer KH, Levy DD, Parris CN, Gozukara EM, Moriwaki S, Adelberg S, Seidman MM. Kraemer KH, et al. J Invest Dermatol. 1994 Nov;103(5 Suppl):96S-101S. doi: 10.1111/1523-1747.ep12399329. J Invest Dermatol. 1994. PMID: 7963692 Free article. Review.
Xeroderma pigmentosum, Cockayne syndrome, the xeroderma pigmentosum-Cockayne syndrome complex, and trichothiodystrophy cells have defects in DNA repair and are associated with clinical and cellular hypersensitivity to ultraviolet radiation (UV). …
Xeroderma pigmentosum, Cockayne syndrome, the xeroderma pigmentosum-Cockayne syndrome complex, and tricho …
Cockayne syndrome in adults: review with clinical and pathologic study of a new case.
Rapin I, Weidenheim K, Lindenbaum Y, Rosenbaum P, Merchant SN, Krishna S, Dickson DW. Rapin I, et al. J Child Neurol. 2006 Nov;21(11):991-1006. doi: 10.1177/08830738060210110101. J Child Neurol. 2006. PMID: 17092472 Free PMC article. Review.
Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. ...This study compares the clinical course and pathology of a man with Cockayne syndrome group A who die …
Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disord …
Characterisation of a novel missense mutation in the ERCC5 gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap.
Stehnach WC, Cantor A, Bongiorno M. Stehnach WC, et al. BMJ Case Rep. 2023 Oct 17;16(10):e253358. doi: 10.1136/bcr-2022-253358. BMJ Case Rep. 2023. PMID: 37848274
Xeroderma pigmentosum-Cockayne syndrome complex (XP-CS) is exceedingly rare, with 43 cases described over the past five decades; 21 of these cases exhibited mutations in the ERCC5 endonuclease associated with xeroderma pigmentosum, group G.We re …
Xeroderma pigmentosum-Cockayne syndrome complex (XP-CS) is exceedingly rare, with 43 cases described over …
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH. Emmert S, et al. J Invest Dermatol. 2002 Jun;118(6):972-82. doi: 10.1046/j.1523-1747.2002.01782.x. J Invest Dermatol. 2002. PMID: 12060391 Free article.
An Israeli-Palestinian girl (XP96TA) had severe abnormalities suggestive of the xeroderma pigmentosum/Cockayne syndrome complex including sun sensitivity, neurologic and developmental impairment, and death by age 6 y. ...
An Israeli-Palestinian girl (XP96TA) had severe abnormalities suggestive of the xeroderma pigmentosum/Cockayne syndr …