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
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