Skip to main content
Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

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)

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172