. . . . . . . . . . . . "[Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho Type (EDSKT) [Miyake et al., 2010], as well as a subset of kyphoscoliosis type EDS without lysyl hydroxylase deficiency (EDS VIB) coined as musculocontractural EDS (MCEDS) [Malfait et al., 2010].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:39:22+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .