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...

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Detalles Bibliográficos
Autores principales: Yoshikawa, Yuji, Koto, Takashi, Ishida, Tomoka, Uehara, Tomoko, Yamada, Mamiko, Kosaki, Kenjiro, Inoue, Makoto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002920/
https://www.ncbi.nlm.nih.gov/pubmed/36902515
http://dx.doi.org/10.3390/jcm12051728

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