학술논문
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Document Type
Journal
Author
Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R.; Slavotinek, Anne; Voermans, Nicol C.; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J.; Jayakar, Parul; Gahl, William A.; Tifft, Cynthia J.; Figuera, Luis E.; Hilhorst-Hofstee, Yvonne; Maugeri, Alessandra; Ishikawa, Ken; Kobayashi, Tomoko; Aoki, Yoko; Ohura, Toshihiro; Kawame, Hiroshi; Kono, Michihiro; Mochida, Kosuke; Tokorodani, Chiho; Kikkawa, Kiyoshi; Morisaki, Takayuki; Kobayashi, Tetsuyuki; Nakane, Takaya; Kubo, Akiharu; Ranells, Judith D.; Migita, Ohsuke; Sobey, Glenda; Kaur, Anupriya; Ishikawa, Masumi; Yamaguchi, Tomomi; Matsumoto, Naomichi; Malfait, Fransiska; Miyake, Noriko; Kosho, Tomoki
Source
Subject
Language
English
ISSN
14686244