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Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling
TGF-β-related heritable connective tissue disorders are characterized by a similar pattern of cardiovascular defects, including aortic root dilatation, mitral valve prolapse, vascular aneurysms, and vascular dissections and exhibit incomplete penetrance and variable expressivity. Because of the phen...
שמור ב:
| הוצא לאור ב: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Cold Spring Harbor Laboratory Press
2017
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5495030/ https://ncbi.nlm.nih.gov/pubmed/28679693 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001727 |
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