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- W2896441382 abstract "Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done." @default.
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- W2896441382 date "2018-08-01" @default.
- W2896441382 modified "2023-09-29" @default.
- W2896441382 title "Sospecha diagnóstica de síndrome de Ehlers Danlos tipo vascular: reporte de un caso y revisión de literatura" @default.
- W2896441382 doi "https://doi.org/10.4067/s0034-98872018000800938" @default.
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