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BMPR1A-associated Cowden-like syndrome

Friday 19 November 2010

Germline mutations in BMPR1A (ALK3) cause a subset of cases of Cowden syndromes. (11536076)

See also

- BMPR1A gene (MIM.601299)

References

- Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ. Gut. 2008 May;57(5):623-7. PMID: 18178612

- Vessels’ morphology in SMAD4 and BMPR1A-related juvenile polyposis. Handra-Luca A, Condroyer C, de Moncuit C, Tepper M, Fléjou JF, Thomas G, Olschwang S. Am J Med Genet A. 2005 Oct 1;138A(2):113-7. PMID: 16152648

- Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Am J Hum Genet. 2001 Oct;69(4):704-11. PMID: 11536076