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Clinical Features and Mutations in the ENG, ACVRL1, and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia
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 to show significant phenotypic variability and genetic heterogeneity with wide ethnic and...
Autores principales: | Lee, Seung-Tae, Kim, Jee-Ah, Jang, Shin-Yi, Kim, Duk-Kyung, Do, Young Soo, Suh, Gee Young, Kim, Jong-Won, Ki, Chang-Seok |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650970/ https://www.ncbi.nlm.nih.gov/pubmed/19270816 http://dx.doi.org/10.3346/jkms.2009.24.1.69 |
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