Article
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Journal of medical genetics - 1 Sept 2022
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
Abstract excerpt
BACKGROUND: Musculocontractural Ehlers-Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE). Although 48 patients in 33 families with mcEDS-CHST14 have been reported, the spectrum of pathogenic variants, accurate prevalence of various manifestations and detailed natural history have not been systematically investigated. METHODS: We collected detailed and...
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