Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye and cardiac abnormalities of Frank-Ter Haar syndrome

Studies reveal that disruption of the podosome adaptor protein TKS4 causes the skeletal dysplasia, eye and cardiac abnormalities of the autosomal-recessive disorder Frank-Ter Haar syndrome (FTHS). An analysis identifies homozygous mutations of the SH3PXD2B gene which encodes the TKS4 protein as the cause of the disorder.