Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient
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DOI: 10.1002/humu.24437
Abstract: Musculocontractural Ehlers–Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE) is a rare connective tissue disorder. This is the first report describing the detailed and comprehensive clinical and pathophysiological features of mcEDS‐DSE. The patient, with… read more here.
Keywords: danlos syndrome; dermatan sulfate; ehlers danlos; mceds dse ... See more keywords
Posterior spinal fusion for severe spinal deformities in musculocontractural Ehlers-Danlos syndrome: Detailed observation of a novel Case and review of two reported cases.
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DOI: 10.1016/j.wneu.2020.08.085
Abstract: BACKGROUND Musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a recently delineated connective tissue disorder characterized by multisystem congenital malformations and progressive connective tissue fragility-related manifestations. With only two cases of mcEDS-CHST14… read more here.
Keywords: spinal fusion; musculocontractural ehlers; posterior spinal; ehlers danlos ... See more keywords
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome
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DOI: 10.3390/genes11010043
Abstract: Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfate epimerase (DSE, mcEDS-DSE).… read more here.
Keywords: musculocontractural ehlers; skin; glycosaminoglycan chains; ehlers danlos ... See more keywords
Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers–Danlos Syndrome
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DOI: 10.3390/genes13111978
Abstract: Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a subtype of EDS caused by defective dermatan sulfate biosynthesis, characterized by multiple malformations (craniofacial features, ocular and visceral malformations) and progressive cutaneous, skeletal, vascular, and visceral fragility-related manifestations. Repeated… read more here.
Keywords: characteristics upper; danlos syndrome; clinical presentation; ehlers danlos ... See more keywords
Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers–Danlos Syndrome
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DOI: 10.3390/genes14020308
Abstract: Loss-of-function mutations in carbohydrate sulfotransferase 14 (CHST14) cause musculocontractural Ehlers–Danlos syndrome-CHST14 (mcEDS-CHST14), characterized by multiple congenital malformations and progressive connective tissue fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral and ocular system. The replacement of… read more here.
Keywords: vitro models; collagen; ehlers danlos; mceds chst14 ... See more keywords
Mouse Models of Musculocontractural Ehlers-Danlos Syndrome
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DOI: 10.3390/genes14020436
Abstract: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a subtype of EDS caused by mutations in the gene for carbohydrate sulfotransferase 14 (CHST14) (mcEDS-CHST14) or dermatan sulfate epimerase (DSE) (mcEDS-DSE). These mutations induce loss of enzymatic activity in… read more here.
Keywords: musculocontractural ehlers; danlos syndrome; models musculocontractural; ehlers danlos ... See more keywords
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
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DOI: 10.3390/genes14051079
Abstract: Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants… read more here.
Keywords: perforation; danlos syndrome; ehlers danlos; mceds chst14 ... See more keywords