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Loeys-Dietz syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SMAD2
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
positive regulation of mesoderm development
regulation of nodal signaling pathway
MAD homology, MH1
SMAD MH1 domain superfamily
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Curated Studies
Most Correlated Studies
Outgrowth endothelial cells from Loeys-Dietz syndrome patients
OMIM - Multisystem Complex Disorders
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Literature
Most Relevant Literature
Transforming growth factor β signaling perturbation in the Loeys-Dietz syndrome.
Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome.
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
Multiple facial milia in patients with Loeys-Dietz syndrome.
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P i…
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Clinical Trials
Most Relevant Clinical Trials
Immunopathology of Loeys-Dietz Syndrome
Marfan Syndrome and Loeys-Dietz Syndrome Moderate Exercise Trial II
Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
Development of a Blood Test for Marfan Syndrome
Thoracic Aortic Dilatation Syndromes
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