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

Wei-Ching ChiuShu-Huey ChenMei-Chen LoYung-Ting Kuo

Published in: BMC pediatrics (2020)

The reported case showed the unusual features of chronic haematoma. This novel frameshift mutation and its phenotype correlation can provide useful information for practitioners about early recognition in Ehlers-Danlos syndrome.

Keyphrases

case report
primary care
general practice
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