Cowden Syndrome

Czech version

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

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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.