Journal article icon

Journal article

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

Abstract:

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-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS). Germline mutations of MADH4 (SMAD4) have been described in a variable number of probands with JPS. A series of familial and isolated European prob...

Expand abstract

Actions


Access Document


Publisher copy:
10.1086/323703

Authors


Woodford-Richens, K More by this author
Lehtonen, R More by this author
Expand authors...
Journal:
American Journal of Human Genetics
Volume:
69
Issue:
4
Pages:
704-711
Publication date:
2001
DOI:
ISSN:
0002-9297
URN:
uuid:6dca852a-a83f-49d6-9f32-fbec17f9e5b3
Source identifiers:
178036
Local pid:
pubs:178036
Language:
English

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP