Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Charlotte Thiels,Martin Fleger,Martina Huemer,Richard J Rodenburg,Frederic M Vaz,Riekelt H Houtkooper,Tobias B Haack,Holger Prokisch,René G Feichtinger,Thomas Lücke,Johannes A Mayr,Saskia B Wortmann

JIMD REPORTS, VOL 29（2016）

引用 9|浏览22

暂无评分

摘要

These cases underline that TAZ mutations might well be an underdiagnosed cause of skeletal myopathy and growth retardation and do not necessarily manifest with the full clinical picture of Barth syndrome.

查看译文

关键词

3-Methylglutaconic aciduria,Barth syndrome,Failure to thrive,Gowers’ sign,Myopathy

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