Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
作者： Waltraut Friedl , Siegfried Uhlhaas , Karsten Schulmann , Manfred Stolte , Steffan Loff
DOI: 10.1007/S00439-002-0748-9
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摘要: Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to multiple juvenile polyps in the gastrointestinal tract. Germline mutations MADH4 or BMPR1A genes have been found be causative of disease a subset JPS patients. So far, no genotype-phenotype correlation has reported. We examined 29 patients with clinical diagnosis for germline and identified seven (24%) five (17%). A remarkable prevalence massive gastric was observed when compared without mutations. This first JPS.
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