Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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1. Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome;Genes;2023-02-16
2. Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes;American Journal of Physiology-Cell Physiology;2022-12-01
3. A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type;The Journal of Pediatric Research;2022-09-01
4. The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development;International Journal of Molecular Sciences;2022-07-05
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