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Clinical utility gene card for: Rothmund-Thomson syndrome.

作者信息

Larizza Lidia, Roversi Gaia, Verloes Alain

机构信息

Dipartimento di Scienze della Salute, University of Milan, Milan, Italy.

出版信息

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.260. Epub 2012 Nov 28.

Abstract
摘要

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本文引用的文献

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RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress.
J Cell Sci. 2012 May 15;125(Pt 10):2509-22. doi: 10.1242/jcs.101501. Epub 2012 Feb 22.
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Rothmund-Thomson syndrome.
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The mutation spectrum in RECQL4 diseases.
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Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.
Hum Genet. 2008 Jul;123(6):643-53. doi: 10.1007/s00439-008-0518-4. Epub 2008 May 27.
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Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.
J Clin Oncol. 2007 Feb 1;25(4):370-5. doi: 10.1200/JCO.2006.08.4558.
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Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
Cancer Lett. 2006 Jan 28;232(1):107-20. doi: 10.1016/j.canlet.2005.07.042. Epub 2005 Nov 3.
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A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.
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