Home > D. Systemic pathology > Genetic and developmental anomalies > Cowden-like syndromes

Cowden-like syndromes

Tuesday 26 August 2008

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#