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Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk

BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Many families experience a poorer quality of life due to the psychological bur...

詳細記述

保存先:
書誌詳細
出版年:BMC Med Genet
主要な著者: Wang, Zhiqing, Liu, Shu, Liu, Siping, Wang, Yadong, Chen, Junsheng, Wu, Baoping
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5930790/
https://ncbi.nlm.nih.gov/pubmed/29720104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0594-9
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