Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1. This is the largest Asian case series and th...

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Detalles Bibliográficos
Autores principales: Yamaguchi, Tomomi, Hayashi, Shujiro, Hayashi, Daisuke, Matsuyama, Takeshi, Koitabashi, Norimichi, Ogiwara, Kenichi, Noda, Masaaki, Nakada, Chiai, Fujiki, Shinya, Furutachi, Akira, Tanabe, Yasuhiko, Yamanaka, Michiko, Ishikawa, Aki, Mizukami, Miyako, Mizuguchi, Asako, Sugiura, Kazumitsu, Sumi, Makoto, Yamazawa, Hirokuni, Izawa, Atsushi, Wada, Yuko, Fujikawa, Tomomi, Takiguchi, Yuri, Wakui, Keiko, Takano, Kyoko, Nishio, Shin‐Ya, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092364/
https://www.ncbi.nlm.nih.gov/pubmed/36189931
http://dx.doi.org/10.1002/ajmg.a.62982

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