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
Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families
✍ Scribed by P Orellana; F López-Köstner; C Heine; C Suazo; E Pinto; J Church; P Carvallo; K Alvarez
- Book ID
- 119839670
- Publisher
- John Wiley and Sons
- Year
- 2013
- Tongue
- English
- Weight
- 498 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0009-9163
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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
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