Associated Papers
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Yamaguchi T et al.
American Journal of Medical Genetics. Part A, 2023
36189931 (PubMed )
Supplement: AJMG-191-37-s004.xlsx › S4_non-Gly
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
Wei X et al.
Frontiers in Genetics, 2023
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Damseh N et al.
American Journal of Medical Genetics. Part A, 2022
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
Ruscitti F et al.
Molecular Genetics & Genomic Medicine, 2021
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Ghali N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Weerakkody RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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