Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Ana S A Cohen,Katelin N Townsend,Qing-San Xiang,Raj Attariwala,Christof Borchers,Christof Senger,Wayne Picker,Jasna Levi,Lila Yewchuk,Joelle Tan,Patrice Eydoux,Amy Lum,Siu-Li Yong,Margaret L McKinnon,Scott A Lear,Robert Everett,Steven J M Jones,Stephen Yip,William T Gibson

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2014）

引用 15|浏览7

暂无评分

摘要

We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in visceral adipose tissue. Targeted deep sequencing of the resected tissue uncovered a p.H1047R variant in PIK3CA, which was absent in blood. This report expands the phenotypic spectrum of mosaic PIK3CA mutations. (C) 2014 Wiley Periodicals, Inc.

查看译文

关键词

segmental overgrowth,fibroadipose hyperplasia,PIK3CA,mosaicism

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要