A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

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lymphatic abnormality 1 angiologydiseases

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lymphatic abnormality 17452 case highlights the need for a very detailed clinical assessment in patients with any suggestion of a lymphatic abnormality . Testing should be directed by phenotype but CCBE1 sequencing should be considered in even apparently

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