Associated Papers
Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.
Abbasciano RG et al.
Journal of the American Heart Association, 2022
35383466 (PubMed )
Supplement: JAH3-11-e023741-s001.pdf
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.
Luo X et al.
Frontiers in Genetics, 2020
32528524 (PubMed )
Supplement: Data_Sheet_1.XLSX › variants_in_candidate_genes
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.
Yokoyama R et al.
Heart and Vessels, 2018
Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling.
Cheng H et al.
International Journal of Pediatric Otorhinolaryngology, 2018
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