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

Abstract 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...

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Detalles Bibliográficos

Principais autores:	Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2020-05-01
Series:	Molecular Genetics & Genomic Medicine
Assuntos:	clinical features delineation dermatan sulfate musculocontractural EDS‐DSE
Acceso en liña:	https://doi.org/10.1002/mgg3.1197
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