A novel nonsense mutation of TGFBR1 in a fetus with untypical Loeys-Dietz syndrome 1
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference11 articles.
1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards,2015
2. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG);Monaghan;Genet Med: official journal of the American College of Medical Genetics,2020
3. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2;Loeys;Nat Genet,2005
4. TGF-beta signaling-related genes and thoracic aortic aneurysms and dissections;Takeda;Int J Mol Sci,2018
5. The type I TGF-beta receptor engages TRAF6 to activate TAK1 in a receptor kinase-independent manner;Sorrentino;Nat Cell Biol,2008
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