Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene

Juvenile polyposis/hereditary hemorrhagic telangiectasia (JPS/HHT) syndrome is a rare, autosomal dominant disorder caused by mutations in the SMAD4 gene, presenting with features of both juvenile polyposis syndrome (JPS) and HHT. Reports and studies of JPS/HHT syndrome are mostly from Western countr...

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Detalles Bibliográficos
Autores principales: Kang, Ben, Hwang, Su-Kyeong, Choi, Sujin, Kim, Eun Soo, Lee, Sang Yub, Ki, Chang-Seok, Cho, Eun-Hae, Lee, Ji-Hyuk, Choe, Byung-Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8193005/
https://www.ncbi.nlm.nih.gov/pubmed/34189096
http://dx.doi.org/10.21037/tp-21-12

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