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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child w...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Hindawi
2017
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385889/ https://www.ncbi.nlm.nih.gov/pubmed/28428902 http://dx.doi.org/10.1155/2017/5321860 |