Tomomi Yamaguchi Shujiro Hayashi Daisuke Hayashi Takeshi Matsuyama Norimichi Koitabashi Kenichi Ogiwara Masaaki Noda Chiai Nakada Shinya Fujiki Akira Furutachi Yasuhiko Tanabe Michiko Yamanaka Aki Ishikawa Miyako Mizukami Asako Mizuguchi Kazumitsu Sugiura Makoto Sumi Hirokuni Yamazawa Atsushi Izawa Yuko Wada Tomomi Fujikawa Yuri Takiguchi Keiko Wakui Kyoko Takano Shin-Ya Nishio Tomoki Kosho
10.1002/ajmg.a.62982
Am J Med Genet A
2023 Jan;191(1):37-51.
col3a1 amplification-based next-generation sequencing copy number variations formalin-fixed and paraffin-embedded (ffpe) samples hereditary connective tissue disorders (hctds) vascular ehlers-danlos syndrome (veds)
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/36189931/
Ehlers-Danlos Syndrome / diagnosis Ehlers-Danlos Syndrome / genetics Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome / diagnosis Ehlers-Danlos Syndrome / genetics Ehlers-Danlos Syndrome, Type IV Collagen Type III / genetics DNA Copy Number Variations Female Genetic Testing Humans Pregnancy Collagen Type III
PMC10092364
36189931
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system
2023