Pathology
germline mutations in
- Cowden disease (MIM.158350)
- juvenile polyposis (MIM.174900)
- hereditary mixed polyposis syndrome-2 (HMPS2)
Immunochemistry
BMPRIA immunohistochemistry may be a promising new tool for the identification of enteric ganglion cells in the evaluation of patients with neurointestinal disorders. PMID: 16226113
References
BMPRIA is a promising marker for evaluating ganglion cells in the enteric nervous system—a pilot study. Brewer KC, Mwizerva O, Goldstein AM. Hum Pathol. 2005 Oct;36(10):1120-6. PMID: 16226113
Cao, X.; Eu, K. W.; Kumarasinghe, M. P.; Li, H. H.; Loi, C.; Cheah, P. Y. : 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. J. Med. Genet. 43: e13, 2006. PubMed ID : 16525031