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Volumn 84, Issue 6, 2013, Pages 593-595

PTEN mosaicism with features of cowden syndrome

Author keywords

Cowden syndrome; Ganglioneuromas; Hamartomatous polyps; Mosaicism; PTEN

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

EID: 84886787802     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12078     Document Type: Article
Times cited : (19)

References (8)
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    • Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)
    • Aretz S, Stienen D, Friedrichs N et al. Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat 2007: 28: 985-992.
    • (2007) Hum Mutat , vol.28 , pp. 985-992
    • Aretz, S.1    Stienen, D.2    Friedrichs, N.3
  • 3
    • 0038545702 scopus 로고    scopus 로고
    • Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
    • Moyhuddin A, Baser ME, Watson C et al. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 2003: 40: 459-463.
    • (2003) J Med Genet , vol.40 , pp. 459-463
    • Moyhuddin, A.1    Baser, M.E.2    Watson, C.3
  • 4
    • 84866070660 scopus 로고    scopus 로고
    • Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome
    • Mester J, Eng C. Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med 2012: 14: 819-822.
    • (2012) Genet Med , vol.14 , pp. 819-822
    • Mester, J.1    Eng, C.2
  • 5
    • 58849157647 scopus 로고    scopus 로고
    • Cowden syndrome: a critical review of the clinical literature
    • Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns 2009: 18: 13-27.
    • (2009) J Genet Couns , vol.18 , pp. 13-27
    • Pilarski, R.1
  • 6
    • 84858150783 scopus 로고    scopus 로고
    • Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review
    • Trufant JW, Greene L, Cook DL, McKinnon W, Greenblatt M, Bosenberg MW. Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review. Hum Pathol 2012: 43: 601-604.
    • (2012) Hum Pathol , vol.43 , pp. 601-604
    • Trufant, J.W.1    Greene, L.2    Cook, D.L.3    McKinnon, W.4    Greenblatt, M.5    Bosenberg, M.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.