Article
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Human mutation - 1 May 2015
Syx Delfien, Van Damme Tim, Symoens Sofie, Maiburg Merel C, van de Laar Ingrid, Morton Jenny, Suri Mohnish, Del Campo Miguel, Hausser Ingrid, Hermanns-Lê Trinh, De Paepe Anne, Malfait Fransiska
Abstract excerpt
Bi-allelic variants in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1), cause musculocontractural Ehlers-Danlos syndrome (MC-EDS), a recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental anomalies. Recently, the identification of bi-allelic variants in DSE, encoding dermatan sulfate epimerase-1 (DS-epi1), in a child with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.