Skip to main content
. Author manuscript; available in PMC: 2023 May 1.
Published in final edited form as: Genet Med. 2022 Jan 17;24(5):1045–1053. doi: 10.1016/j.gim.2021.12.015

Figure 1. Patient cohort and workflow of molecular characterization.

Figure 1

Overview of the participants included in this study and the results of their molecular screening. aIdentifiers (IDs) of patients with bad quality DNA: 372 and 373. bIDs of patients who did not have an FBN1 variant described in their patient report and were not sequenced in our genetic ancillary study: 369, 370, and 371. del, deletion; dup, duplication; MLPA, multiplex ligation-dependent probe amplification; NGS, next-generation sequencing; P/LP, pathogenic or likely pathogenic; PHN, Pediatric Heart Network; TAAD, Thoracic Aortic Aneurysm and Dissection; VUS, variant of uncertain significance