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Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.

Molecular genetics & genomic medicine - 1 May 2020

Lautrup Charlotte K, Teik Keng W, Unzaki Ai, Mizumoto Shuji, Syx Delfien, Sin Heng H, Nielsen Irene K, Markholt Sara, Yamada Shuhei, Malfait Fransiska, Matsumoto Naomichi, Miyake Noriko, Kosho Tomoki

Abstract excerpt

BACKGROUND: Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis. Forty-one patients with mcEDS-CHST14 and three patients with mcEDS-DSE have been described in the literature. METHODS: Clinical, molecular, and glycobiological...

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PMID: 32130795
DOI: 10.1002/mgg3.1197
PMCID: PMC7216804

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