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. 2022 Mar;101(3):375-376.
doi: 10.1111/cge.14094. Epub 2021 Dec 8.

Embryonal sarcoma of the liver in a girl with Cockayne syndrome

Colin Thorbinson  1   2 , Anthony Penn  1   2 , Pantelis Nicola  2   3   4   5 , Claire Hardcastle  2   4 , Sarah Waller  2   4 , Simon Ramsden  2   4 , Tim H H Coorens  6 , Vivian Tang  2   7 , Edmund Cheesman  2   8 , Sofia Douzgou  2   4   9   10 , Stefan Meyer  1   2   3   5
Affiliations

Embryonal sarcoma of the liver in a girl with Cockayne syndrome

Colin Thorbinson et al. Clin Genet. 2022 Mar.

Abstract

The first reported malignancy associated with Cockayne syndrome.

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References

REFERENCES

    1. Calmels N, Botta E, Jia N, et al. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. J Med Genet. 2018;55(5):329-343.
    1. Wilson BT, Stark Z, Sutton RE, 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.
    1. Tiwari V, Baptiste BA, Okur MN, Bohr VA. Current and emerging roles of Cockayne syndrome group B (CSB) protein. Nucleic Acids Res. 2021;49(5):2418-2434.
    1. Reid-Bayliss KS, Arron ST, Loeb LA, Bezrookove V, Cleaver JE. Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency. Proc Natl Acad Sci U S A. 2016;113(36):10151-10156.
    1. Ismail H, Dembowska-Baginska B, Broniszczak D, et al. Treatment of undifferentiated embryonal sarcoma of the liver in children-single center experience. J Pediatr Surg. 2013;48(11):2202-2206.

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