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Journal article

Germline PTEN mutations in Cowden syndrome-like families.

Abstract:

Cowden syndrome (CS) or multiple hamartoma syndrome (MIM 158350) is an autosomal dominant disorder with an increased risk for breast and thyroid carcinoma. The diagnosis of CS, as operationally defined by the International Cowden Consortium, is made when a patient, or family, has a combination of pathognomonic major and/or minor criteria. The CS gene has recently been identified as PTEN, which maps at 10q23.3 and encodes a dual specificity phosphatase. PTEN appears to function as a tumour sup...

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Publisher copy:
10.1136/jmg.35.11.881

Authors


Journal:
Journal of medical genetics
Volume:
35
Issue:
11
Pages:
881-885
Publication date:
1998-11-01
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Language:
English
Keywords:
Pubs id:
pubs:72338
UUID:
uuid:c456887a-d5f5-4722-bafb-0a8dff5e5206
Local pid:
pubs:72338
Source identifiers:
72338
Deposit date:
2012-12-19

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