Associated Papers
The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.
Massadeh S et al.
Genes, 2022
Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.
Ádám C et al.
Cell Communication and Signaling : Ccs, 2015
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Wilson GR et al.
European Journal of Human Genetics : Ejhg, 2014
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
Iqbal Z et al.
American Journal of Human Genetics, 2010
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