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Additional file 2 of Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1

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posted on 28.10.2020, 04:32 by Wei-Ching Chiu, Shu-Huey Chen, Mei-Chen Lo, Yung-Ting Kuo

(TIF 103 kb)

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Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1

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Ehlers-Danlos syndrome classical type Collagen type V alpha-1 chain (COL5A1) gene COL5A1 frameshift mutation Collagen type V heparin-binding Bleeding diathesis

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