Article
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
Human mutation - 1 Nov 2010
Malfait Fransiska, Syx Delfien, Vlummens Philip, Symoens Sofie, Nampoothiri Sheela, Hermanns-Lê Trinh, Van Laer Lut, De Paepe Anne
Abstract excerpt
We present clinical and molecular findings of three patients with an EDS VIB phenotype from two consanguineous families. The clinical findings of EDS kyphoscoliotic type (EDS type VIA and B) comprise kyphoscoliosis, muscular hypotonia, hyperextensible, thin and bruisable skin, atrophic scarring, joint hypermobility and variable ocular involvement. Distinct craniofacial abnormalities, joint contractures, wrinkled...
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