De Novo Mutation of the Latency-Associated Peptide Domain of TGFB3 in a Patient With Overgrowth and Loeys-Dietz Syndrome Features

被引:29
作者
Matyas, Gabor [1 ,2 ]
Naef, Paulina [1 ]
Tollens, Martin [3 ]
Oexle, Konrad [4 ]
机构
[1] Fdn People Rare Dis, Ctr Cardiovasc Genet & Gene Diagnost, Zurich, Switzerland
[2] Univ Zurich, Zurich Ctr Integrat Human Physiol, Zurich, Switzerland
[3] Stadt Krankenhaus, Munich, Germany
[4] Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany
关键词
D O I
10.1002/ajmg.a.36593
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学];
摘要
引用
收藏
页码:2141 / 2143
页数:3
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