De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.
作者信息
Matyas Gabor, Naef Paulina, Tollens Martin, Oexle Konrad
机构信息
Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
出版信息
Am J Med Genet A. 2014 Aug;164A(8):2141-3. doi: 10.1002/ajmg.a.36593. Epub 2014 May 5.
PMID:24798638
Abstract
摘要
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