Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome
| Data(s) |
01/04/2006
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| Resumo |
Background: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients. |
| Identificador | |
| Idioma(s) |
eng |
| Direitos |
info:eu-repo/semantics/restrictedAccess |
| Fonte |
Hearle , N C M , Rudd , M F , Lim , W , Murday , V , Lim , A G , Phillips , R K , Lee , P W , O'Donohue , J , Morrison , P , Norman , A , Hodgson , S V , Lucassen , A & Houlston , R S 2006 , ' Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome ' Journal of Medical Genetics , vol 43 , no. 4 , pp. e15 . DOI: 10.1136/jmg.2005.036830 |
| Palavras-Chave | #/dk/atira/pure/subjectarea/asjc/1300/1311 #Genetics #/dk/atira/pure/subjectarea/asjc/2700/2716 #Genetics(clinical) |
| Tipo |
article |
