The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected i
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Chinese patients
โ Scribed by Zhiqing Wang; Yulan Chen; Baoping Wu; Haoxuan Zheng; Jiman He; Bo Jiang
- Book ID
- 115009219
- Publisher
- BioMed Central
- Year
- 2011
- Tongue
- English
- Weight
- 305 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1471-2350
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Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disorder with variable expression and incomplete penetrance characterized by mucocutaneous pigmentation, predisposition to hamartomatous intestinal polyposis, and various other neoplasms. It occurs in approximately 1 in 8,300 to 2
The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently identified LKB1/STK11 gene located at chromosome 19p