| 1 | JPS, JPS2, JPS3, JPHT, HMPS2, SMAD4, BMPR1A, PTEN |
| High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. | |
| Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. | |
| J Med Genet 44(11):702-9. Epub 2007 Sep 14. 2007 | |
| 2 | HMPS2, BMPR1A |
| Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. | |
| Cao X, Eu KW, Kumarasinghe MP, Li HH, Loi C, Cheah PY. | |
| J Med Genet 43(3):e13. 2006 | |