To access the data, click or select the words “Appendix 1.” Schematic pedigrees of families with causative LTBP2 mutations. Black arrows indicate probands affected by CEL. Open symbols: Clinically unaffected patients; Squares: Males; Circles: Females; Half-filled shaded areas: Heterozygous individuals; Solid symbols with both halves filled: Compound heterozygous or homozygous figures.