Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

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Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-R...

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Bibliographic Details
Main Authors: Zhou, X, Woodford-Richens, K, Lehtonen, R, Kurose, K, Aldred, M, Hampel, H, Launonen, V, Virta, S, Pilarski, R, Salovaara, R, Bodmer, W, Conrad, B, Dunlop, M, Hodgson, S, Iwama, T, Järvinen, H, Kellokumpu, I, Kim, J, Leggett, B, Markie, D, Mecklin, J, Neale, K, Phillips, R, Piris, J, Rozen, P
Format: Journal article
Language:English
Published: 2001

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