Fig. 1From: Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case reportSchematic representation of the FLNB protein with all identified homozygous variants causing recessive spondylocarpotarsal synostosis syndrome. Variant identified in the present study is shown in bold. ABD1 and ABD2 -Actin binding domains. Twenty-four repeat domains are separated by two hinge regions; hinge 1 and hinge 2Back to article page