Article
Lymphatic system malformations in Noonan syndrome: Two case reports and imaging analysis.
Lymphology - 1 Jan 2020
Liu N-F, Gao M-Z
Abstract excerpt
L ymphedema is a well-known complication of Noonan syndrome (NS) but the lymphatic malformations in NS are poorly understood. We report clinical, genetic, and imaging information about a boy and girl with NS and late-onset lower extremity lymphedema. A de novo missense mutation of RIT1 (NM_006912.5) c.246T>A, p.Phe82Leu was identified in the girl, who also showed systemic lymphatic hyperplasia and dysfunction....
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