Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Mari MinatogawaAi UnzakiHiroko MorisakiDelfien SyxTohru SonodaAndreas R JaneckeAnne M SlavotinekNicol C VoermansYves LacassieRoberto Mendoza-LondonoKlaas J WierengaParul JayakarWilliam A GahlCynthia J TifftLuis E FigueraYvonne Hilhorst-HofsteeAlessandra MaugeriKen IshikawaTomoko KobayashiYoko AokiToshihiro OhuraHiroshi KawameMichihiro KonoKosuke MochidaChiho TokorodaniKiyoshi KikkawaTakayuki MorisakiTetsuyuki KobayashiTakaya NakaneAkiharu KuboJudith D RanellsOhsuke MigitaGlenda SobeyAnupriya KaurMasumi IshikawaTomomi YamaguchiNaomichi MatsumotoFransiska MalfaitNoriko MiyakeTomoki KoshoPublished in: Journal of medical genetics (2021)
This first international collaborative study of mcEDS-CHST14 demonstrated that the subtype represents a multisystem disorder with unique set of clinical phenotypes consisting of multiple malformations and progressive fragility-related manifestations; these require lifelong, multidisciplinary healthcare approaches.