Cowden Syndrome
Authors:
A. Puchmajerová 1; P. Vasovčák 1; A. Křepelová 1; P. Plevová 1
Authors place of work:
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 the journal:
Klin Onkol 2009; 22(Supplementum): 56-57
Zdroje
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.
Štítky
Paediatric clinical oncology Surgery Clinical oncologyČlánok vyšiel v časopise
Clinical Oncology
2009 Číslo Supplementum
- Spasmolytic Effect of Metamizole
- Metamizole at a Glance and in Practice – Effective Non-Opioid Analgesic for All Ages
- Metamizole in perioperative treatment in children under 14 years – results of a questionnaire survey from practice
- Current Insights into the Antispasmodic and Analgesic Effects of Metamizole on the Gastrointestinal Tract
- Obstacle Called Vasospasm: Which Solution Is Most Effective in Microsurgery and How to Pharmacologically Assist It?
Najčítanejšie v tomto čísle
- Hereditary Pancreatitis
- Gorlin Syndrome
- Multiple Endocrine Neoplasia Type 2 Syndrome
- Multiple Endocrine Neoplasia Type 1 Syndrome