Cockayne Syndrome

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Tax calculation will be finalised at checkout

Purchases are for personal use only

Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorfiche e malattie costituzionali dello scheletro. Piccin, Padova, 1996
Google Scholar
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a sub-unit of RN A polymerase II TFIIH. Cell 1979; 82: 929–34
Google Scholar
Lehmann AR, Bootsma D, Clarkson SG, Cleaver JE, McAlpine PJ, Tanaka K, Thompson LH, Wood RD. Nomenclature of human DNA repair genes. Mutat Res 1994; 315: 41–2
CAS PubMed Google Scholar
Macdonald WB, Fitch KD, Lewis IC. Cockayne’s syndrome: a heredo-familial disorder of growth and development. Pediatrics 1960; 25: 997–1007
CAS PubMed Google Scholar
Nance MA, Berry SA. Cockayne syndrome: review of140 cases. Am J Med Genet 1992; 42: 68–84
Article CAS PubMed Google Scholar
Stefanini M, Fawcett H, Botta E, Nardo T, Lehmann AR: Genetic analysis of twenty-two patients with Cockayne syndrome. Hum Genet 1996; 97: 418–23
CAS PubMed Google Scholar
Talwar D, Smith SA. CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome. Am J Med Genet 1989; 34: 194–8
Article CAS PubMed Google Scholar

(2005). Cockayne Syndrome. In: Abnormal Skeletal Phenotypes. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-30361-8_35