Author:
Colombo Elisa Adele,Fontana Laura,Roversi Gaia,Negri Gloria,Castiglia Daniele,Paradisi Mauro,Zambruno Giovanna,Larizza Lidia
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. Kitao S, Shimamoto A, Goto M et al: Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999; 22: 82–84.
2. Wang LL, Gannavarapu A, Kozinetz CA et al: Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 2003; 95: 669–674.
3. Larizza L, Roversi G, Volpi L : Rothmund-Thomson syndrome. Orphanet J Rare Dis 2010; 5: 2.
4. De Somer L, Wouters C, Morren MA et al: Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. Orphanet J Rare Dis 2010; 5: 37.
5. Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F : Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review. Am J Med Genet A 2010; 152A: 1575–1579.
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