Etiology
germline mutations in
- PTEN gene (MIM.601728)
- SDHB/SDHD of succinate dehydrogenase (18678321)
- BMPR1A gene (MIM.601299)
See also
Cowden disease
References
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008 Aug;83(2):261-8. PMID: 18678321