Individual II:3 underwent testing using a commercial panel of 92 connective tissue disorder genes, revealing a variant in TGFBR2 (NM_003242.6 (TGFBR2):c.412T>G) classified as likely pathogenic by a commercial genetic testing lab with a proprietary variant calling software based on ACMG guidelines. This evidence concerns the gene TGFBR2 and connective tissue disorder.