医学
介绍(产科)
血管畸形
突变
毛细管作用
病理
放射科
遗传学
生物
基因
复合材料
材料科学
作者
Jaclyn Rosenthal Himeles,Cathryn Sibbald,Melinda Jen,Matthew A. Deardorff,James R. Treat
摘要
Abstract Acquired capillary malformations are rare vascular anomalies composed of dilated capillaries in the skin. We present a pediatric case of an acquired capillary malformation as a novel presentation of the PIK3CA ‐related overgrowth syndromes. Using next‐generation sequencing, we identified a PIK3CA p.Val344Met mutation within the acquired capillary malformation with possible prognostic and therapeutic significance.
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