Congenital four-limb Lymphedema: a case report
Keywords:
primary lymphedema, PIEZO1-related lymphatic dysplasia, GJC2-related lymphedemaAbstract
Primary lymphedema is a rare genetic, progressive disorder characterized by swelling due to inadequate lymphatic drainage by defective lymphatic vessels. Here we report a case of a teenage girl presenting with primary lymphedema but with erratic family history and features supportive of both a dominant and recessively inherited described mutationsReferences
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