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PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
Am J Med Genet A. 2013 Nov;161A(11):2902-8. doi: 10.1002/ajmg.a.36266. Epub 2013 Oct 7.
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Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis.
J Clin Oncol. 2015 Aug 10;33(23):2537-44. doi: 10.1200/JCO.2014.60.3456. Epub 2015 Jul 13.
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Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Hum Mutat. 2017 Oct;38(10):1372-1377. doi: 10.1002/humu.23288. Epub 2017 Jul 17.

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本文引用的文献

1
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
JAMA. 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877.
2
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
Gastroenterology. 2010 Dec;139(6):1927-33. doi: 10.1053/j.gastro.2010.06.061. Epub 2010 Jun 27.
3
Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients.
Hered Cancer Clin Pract. 2010 Jun 17;8(1):6. doi: 10.1186/1897-4287-8-6.
5
Subtle variations in Pten dose determine cancer susceptibility.
Nat Genet. 2010 May;42(5):454-8. doi: 10.1038/ng.556. Epub 2010 Apr 18.
6
Head circumference in the clinical detection of PTEN hamartoma tumor syndrome in a clinic population at high-risk of breast cancer.
Breast Cancer Res Treat. 2010 Nov;124(2):459-65. doi: 10.1007/s10549-010-0839-6. Epub 2010 Mar 27.
8
PTEN hamartoma tumor syndrome: an overview.
Genet Med. 2009 Oct;11(10):687-94. doi: 10.1097/GIM.0b013e3181ac9aea.
10
Cowden syndrome: a critical review of the clinical literature.
J Genet Couns. 2009 Feb;18(1):13-27. doi: 10.1007/s10897-008-9187-7. Epub 2008 Oct 30.

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