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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield