Loeys-dietz Syndrome
What's New
Last Posted: Mar 18, 2023
- Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Daniel Greene et al. Nature medicine 2023 3 - Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features
Y Wang et al, JAMA Cardiology, September 15, 2022 - Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman Alan C et al. JAMA cardiology 2020 Oct - Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
Kaadan M Ihsan et al. Circulation. Genomic and precision medicine 2018 11(4) e001933 - Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb - CLINGEN Actionability Report for Loeys-Dietz Syndrome - SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ClinGen Actionability Working Group - CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10
ClinGen Actionability Working Group - CLINGEN Actionability Report for Familial thoracic aortic aneurysms and dissections (FTAAD)- FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11
ClinGen Actionability Working Group - Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.
Hicks Kelli L et al. Journal of vascular surgery 2018 Mar - A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.
Hitchcock Emma et al. Journal of genetic counseling 2016 Oct - Loeys-Dietz syndrome
From NCATS Genetic and Rare Diseases Information Center - Loeys-Dietz syndrome type 1
From NCATS Genetic and Rare Diseases Information Center - Loeys-Dietz syndrome type 2
From NCATS Genetic and Rare Diseases Information Center - Loeys-Dietz syndrome type 3
From NCATS Genetic and Rare Diseases Information Center - Loeys-Dietz syndrome type 4
From NCATS Genetic and Rare Diseases Information Center
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Neurological Disorders (ND) PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to neurological disorders....more
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 09, 2024
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