Exonic STK11 deletions are not a rare cause of Peutz‐Jeghers syndrome

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. METHODS: Here...

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Hlavní autoři: 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 J, Norman, A, Hodgson, S V, Lucassen, A, Houlston, R S
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2006
Témata:
Electronic Letter
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563227/
https://ncbi.nlm.nih.gov/pubmed/16582077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.036830
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