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

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 thr...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216804/
https://ncbi.nlm.nih.gov/pubmed/32130795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1197
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