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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 2020-10-28, 04:32 authored by Wei-Ching Chiu, Shu-Huey Chen, Mei-Chen Lo, Yung-Ting Kuo
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    BMC Pediatrics

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    Keywords

    Ehlers-Danlos syndrome classical typeCollagen type V alpha-1 chain (COL5A1) geneCOL5A1 frameshift mutationCollagen type V heparin-bindingBleeding diathesis

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