Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (AVM). HHT is mostly caused by mutations either in the ENG or ACVRL1 genes, and...

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Detalles Bibliográficos
Autores principales: Kitayama, Kana, Ishiguro, Tomoya, Komiyama, Masaki, Morisaki, Takayuki, Morisaki, Hiroko, Minase, Gaku, Hamanaka, Kohei, Miyatake, Satoko, Matsumoto, Naomichi, Kato, Masaru, Takahashi, Toru, Yorifuji, Tohru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647423/
https://www.ncbi.nlm.nih.gov/pubmed/34872578
http://dx.doi.org/10.1186/s12920-021-01139-y

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