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Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome

✍ Scribed by Meur, Nathalie Le; Martin, Cosette; Saugier-Veber, Pascale; Joly, Géraldine; Lemoine, Françoise; Moirot, Hélène; Rossi, Annick; Bachy, Bruno; Cabot, Annick; Joly, Pascal


Book ID
110025563
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
109 KB
Volume
12
Category
Article
ISSN
1018-4813

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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