- A Novel Germline Mutation in Exon 10 of the SMAD4 Gene in a Familial Juvenile Polyposis
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Jee MJ, Yoon SM, Kim EJ, Choi HJ, Kim JW, Sung RH, Han JH, Chae HB, Park SM, Youn SJ
- KMID: 1712337
- Gut Liver.
- 2013 Nov;7(6):747-751.
Familial juvenile polyposis (FJP) is a rare autosomal dominant hereditary disorder that is characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk... -
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- Clinical Features and Mutations in the ENG, ACVRL1, and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia
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Lee ST, Kim JA, Jang SY, Kim DK, Do YS, Suh GY, Kim JW, Ki CS
- KMID: 1794409
- J Korean Med Sci.
- 2009 Feb;24(1):69-76.
- doi: 10.3346/jkms.2009.24.1.69
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that is characterized by abnormal communication between the arteries and veins in the skin, mucosa, and various organs. HHT has been reported... -
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