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Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p13.3 and Identification of a Potential Second Locus, on 19q13.4

✍ Scribed by Hamid Mehenni; Jean-Louis Blouin; Uppala Radhakrishna; Shiv Shanker Bhardwaj; Kamla Bhardwaj; V.B. Dixit; Kent F. Richards; Ambrosio Bermejo-Fenoll; Antonio Silva Leal; Ranjan C. Raval; Stylianos E. Antonarakis


Book ID
117852235
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
921 KB
Volume
61
Category
Article
ISSN
0002-9297

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## Abstract Germ‐line mutations in the serine‐threonine kinase gene __STK11__ (__LKB1__) cause Peutz–Jeghers syndrome (PJS), a rare autosomal dominantly inherited disease, characterized by hamartomatous polyposis and mucocutaneous pigmentation. __STK11__ mutations only account for about half of PJS