Clinical utility gene card for: Rothmund–Thomson syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2012260.pdf
Reference16 articles.
1. Siitonen HA, Sotkasiira J, Biervliet M et al: The mutation spectrum in RECQL4 diseases. Eur J Hum Genet 2009; 17: 151–158.
2. Larizza L, Roversi G, Volpi L : Rothmund-Thomson syndrome. Orphanet J Rare Dis 2010; 5: 2.
3. Wang LL, Worley K, Gannavarapu A et al: Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet 2002; 71: 165–167.
4. Balraj P, Concannon P, Jamal R et al: An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. Mutat Res 2002; 508: 99–105.
5. Miozzo M, Castorina P, Riva P et al: Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. Int J Cancer 1998; 77: 504–510.
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