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Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

Abstract:

Juvenile polyps are present in a number of Mendelian disorders, sometimes in association only with gastrointestinal cancer [juvenile polyposis syndrome (JPS)] and sometimes as part of known syndromes (Cowden, Gorlin and Banayan-Zonana) in association with developmental abnormalities, dysmorphic features or extra-intestinal tumours. Recently, a gene for JPS was mapped to 18q21.1 and the candidate gene DPC4 (SMAD4) was shown to carry frameshift mutations in some JPS families. We have analysed e...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/7.12.1907

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Journal:
Human molecular genetics
Volume:
7
Issue:
12
Pages:
1907-1912
Publication date:
1998-11-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Source identifiers:
36811
Language:
English
Keywords:
Pubs id:
pubs:36811
UUID:
uuid:12885888-fcfa-4e5a-a503-a74939a2cb89
Local pid:
pubs:36811
Deposit date:
2012-12-19

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