Sporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12328-023-01884-w.pdf
Reference19 articles.
1. Schreibman IR, Baker M, Amos C, et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100:476–90.
2. Sayed MG, Ahmed AF, Ringold JR, et al. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Ann Surg Oncol. 2002;9:901–6.
3. Friedl W, Uhlhaas S, Schulmann K, et al. Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum Genet. 2002;111:108–11.
4. Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44:702–9.
5. Ishida H, Ishibashi K, Iwama T. Malignant tumors associated with juvenile polyposis syndrome in Japan. Surg Today. 2018;48:253–63.
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1. SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis;American Journal of Medical Genetics Part A;2024-05-02
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