Cowden-like syndromes
Etiology
germline mutations in
- PTEN gene (MIM.601728)
- SDHB of succinate dehydrogenase (#18678321#)
- SDHD of succinate dehydrogenase (#18678321#)
- BMPR1A gene (MIM.601299) (BMPR1A-associated Cowden-like syndrome)
See also
Cowden disease (MIM.158350)
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#