Genotype-phenotype correlations in Peutz-Jeghers syndrome.

  title={Genotype-phenotype correlations in Peutz-Jeghers syndrome.},
  author={Christopher I. Amos and M B Keitheri-Cheteri and Mahyar Sabripour and Chongjuan Wei and Thomas J. Mcgarrity and Michael F. Seldin and Linda Nations and Patrick M. Lynch and Herma H. Fidder and Eitan Friedman and Marsha L. Frazier},
  journal={Journal of medical genetics},
  volume={41 5},
BACKGROUND AND AIMS Peutz-Jeghers syndrome (PJS) is a dominantly inherited disorder often caused by mutations in STK11. Time to onset of symptoms was characterised for a large collection of individuals with PJS who had been tested for STK11 mutations and genotype-phenotype correlations were evaluated. METHODS We characterised mutations in 42 independent probands and also used a historical cohort design to study 51 individuals with Peutz-Jeghers syndrome who had completed self-administered… CONTINUE READING

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