Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
66例由CHST14致病变异引起的肌肉挛缩型埃勒斯-当洛斯综合征（mcEDS-CHST14）患者的临床和分子特征
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2020-107623
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
