Peutz-Jeghers syndrome

I P Tomlinson, R S Houlston

Research output: Contribution to journalReview articlepeer-review


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
Issue number12
Publication statusPublished - Dec 1997


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


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