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Exome Sequencing Revealed Novel Germline Mutations in Chinese Peutz–Jeghers Syndrome Patients

✍ Scribed by Wang, Huan-Huan; Xie, Na-Na; Li, Qi-Yuan; Hu, Yi-Qun; Ren, Jian-Lin; Guleng, Bayasi

Book ID
121573999
Publisher
Springer US
Year
2013
Tongue
English
Weight
361 KB
Volume
59
Category
Article
ISSN
0163-2116

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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