TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome
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چکیده
منابع مشابه
Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy.
Loeys-Dietz syndrome is a recently-characterised genetic disorder with an autosomal-dominant inheritance due to mutations in the transforming growth factor beta-receptor Type 1 or Type 2 genes. We present a Chinese female neonate with genetically-confirmed Loeys-Dietz syndrome, cleft palate, hypertelorism, and an early dilatation of the aortic root and ascending aorta. This syndrome is associat...
متن کاملPrevalence of Dural Ectasia in Loeys-Dietz Syndrome: Comparison with Marfan Syndrome and Normal Controls
BACKGROUND AND PURPOSE Dural ectasia is well recognized in Marfan syndrome (MFS) as one of the major diagnostic criteria, but the exact prevalence of dural ectasia is still unknown in Loeys-Dietz syndrome (LDS), which is a recently discovered connective tissue disease. In this study, we evaluated the prevalence of dural ectasia in LDS according by using qualitative and quantitative methods and ...
متن کاملNeuroradiologic Manifestations of Loeys - Dietz Syndrome Type
V.J. Rodrigues S. Elsayed B.L. Loeys H.C. Dietz D.M. Yousem BACKGROUND AND PURPOSE: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifest...
متن کاملPrenatal diagnosis of Loeys-Dietz syndrome.
Introduction ▼ Loeys–Dietz is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2, respectively) (B.L. Loeys ...
متن کاملLoeys-dietz Syndrome: Perioperative Anesthesia Considerations.
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disease related to genetic mutations in receptors for the cytokine transforming growth factor-receptor type 1 (TGFB-R1) or 2 gene (TGFB-R2) on the cell surface. LDS results in abnormal protein synthesis and dysfunctional connective tissue, which can result in unique cardiovascular anesthesia challenges related to perioperative management. ...
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ژورنال
عنوان ژورنال: Journal of Negative Results in BioMedicine
سال: 2012
ISSN: 1477-5751
DOI: 10.1186/1477-5751-11-9