Rothmund-Thomson syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-5-2.pdf
Reference110 articles.
1. Rothmund A: Uber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration. Albrecht von Graefes Arch Klin Exp Ophthal. 1868, 14: 159-182. 10.1007/BF02720945.
2. Thomson MS: Poikiloderma congenitale. Brit J Dermatol. 1936, 48: 221-234. 10.1111/j.1365-2133.1936.tb10332.x.
3. Taylor WB: Rothmund's syndrome-Thomson syndrome. Arch Dermatol. 1957, 75: 236-244.
4. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y: Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999, 22: 82-84. 10.1038/8788.
5. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE: Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003, 95: 669-674. 10.1093/jnci/95.9.669.
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