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Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase
Musculocontractural Ehlers–Danlos syndrome, caused by biallelic loss-of-function variants for dermatan sulfate epimerase (mcEDS-DSE), is a rare connective tissue disorder. Eight patients with mcEDS-DSE have been described with ocular complications, including blue sclera, strabismus, high refractive...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002920/ https://www.ncbi.nlm.nih.gov/pubmed/36902515 http://dx.doi.org/10.3390/jcm12051728 |