Associated Papers
The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.
Massadeh S et al.
Genes, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C et al.
Hgg Advances, 2022
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Durand B et al.
European Journal of Medical Genetics, 2020
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ et al.
American Journal of Human Genetics, 2018
Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.
Ádám C et al.
Cell Communication and Signaling : Ccs, 2015
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
Select a paper to view details