Article
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.
American journal of human genetics - 1 Dec 1997
Mehenni H, Blouin J L, Radhakrishna U, Bhardwaj S S, Bhardwaj K, Dixit V B, Richards K F, Bermejo-Fenoll A, Leal A S, Raval R C, Antonarakis S E
Abstract excerpt
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease with variable expression and incomplete penetrance, characterized by mucocutaneous pigmentation and hamartomatous polyposis. Patients with PJS have increased frequency of gastrointestinal and extraintestinal malignancies (ovaries, testes, and breast). In order to map the locus (or loci) associated with PJS, we performed a genomewide linkage analysis,...
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