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

Z. Iqbal,P. Cejudo-Martı́n,A. D. de Brouwer,B. van der Zwaag,P. Ruiz‐Lozano,M. Scimia,J. Lindsey,R. Weinreb,B. Albrecht,A. Mégarbané,Y. Alanay,Z. Ben‐Neriah,M. Amenduni,R. Artuso,J. Veltman,E. van Beusekom,Astrid R. Oudakker,J. Millán,R. Hennekam,B. Hamel,S. Courtneidge,H. van Bokhoven

Published 2010 in American Journal of Human Genetics

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