Fig. 4

Variant type and distribution in PVNH1 patients with CV and CTD features. Schematic representation of the FLNA domains and overview of FLNA variations from PVNH1 patients with CV and CTD features (In blue: Cohort 1, in Red: Cohort 2, in grey: Literature patients). Variations with proven somatic mosaicism are underlined. Copy Number Variants are indicated with brackets, from (i) to (v) (see the bottom-left sidebar)