Peutz-Jeghers syndrome

I P Tomlinson, R S Houlston

Research output: Contribution to journalReview articlepeer-review

Abstract

Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly interesting. Recently, the PJS gene has been mapped to chromosome 19p13.

Original languageEnglish
Pages (from-to)1007-11
Number of pages5
JournalJournal of Medical Genetics
Volume34
Issue number12
DOIs
Publication statusPublished - Dec 1997

Keywords

  • Adult
  • Female
  • Humans
  • Male
  • Middle Aged
  • Peutz-Jeghers Syndrome

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