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Cowden Syndrome


Authors: A. Puchmajerová 1;  P. Vasovčák 1;  A. Křepelová 1;  P. Plevová 1
Authors‘ workplace: Ústav patologie & Laboratoř molekulární patologie LF UP Olomouc ;  Ústav biologie a lékařské genetiky FN Motol a 2. LF UK, Praha2 Oddělení lékařské genetiky FN Ostrava 1
Published in: Klin Onkol 2009; 22(Supplementum): 56-57


Sources

1. Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003; 22(3): 183–198.

2. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000; 37(11): 828–830.

3. Zbuk KM, Stein JL, Eng C. PTEN Hamartoma Tumor Syndrome. GeneReviews. Dostupné z http://www.gene­tests.org.

4. Marsh DJ, Coulon V, Lunetta KL et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7(3): 507–515.

5. Vasovcak P, Krepelova A, Puchmajerova A et al. A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis. Eur J Gastroenterol Hepatol 2007; 19(6): 513–517.

Labels
Paediatric clinical oncology Surgery Clinical oncology
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