Article
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.
American journal of medical genetics. Part A - 1 Aug 2011
Shimizu Kenji, Okamoto Nobuhiko, Miyake Noriko, Taira Katsuaki, Sato Yumiko, Matsuda Keiko, Akimaru Noriko, Ohashi Hirofumi, Wakui Keiko, Fukushima Yoshimitsu, Matsumoto Naomichi, Kosho Tomoki
Abstract excerpt
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)...
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