juvenile polyposis with hereditary hemorrhagic telangiectasia (JPHT)

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Pathology

Genetics

Clinical manifestations

Complications

More general terms

References

  1. Howe JR et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280:1086-8, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9582123
  2. OMIM https://mirror.omim.org/entry/175050
  3. UniProt http://www.uniprot.org/uniprot/Q13485.html

Database