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Two novel LKB1 mutations in Colombian Peutz–Jeghers syndrome patients

✍ Scribed by A Vélez; MH Gaitan; JR Marquez; A Castaño; JI Restrepo; S Jaramillo; A Gamarra; M Novelli; MM Echeverry; I Tomlinson; LG Carvajal-Carmona

Book ID
110888752
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
160 KB
Volume
75
Category
Article
ISSN
0009-9163

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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

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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