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-Martin; A-M. de Brouwer; A. van der Zwaag; P. Ruiz-Lozano; M.C. Scimia; J.D. Lindsey; R. Weinreb; B. Albrecht; A. Megarbane; Y. Alanay; Z. Ben Neriah; M. Amenduni; R. Artuso; J.A. Veltman; E. van Beusekom; A.R. Oudakker; J.L. Millan; R.C. Hennekam; B. Hamel; S.A. Courtneidge; H. van Bokhoven

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

Translated title of the contribution: 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-Martin, A-M. de Brouwer, A. van der Zwaag, P. Ruiz-Lozano, M.C. Scimia, J.D. Lindsey, R. Weinreb, B. Albrecht, A. Megarbane, Y. Alanay, Z. Ben Neriah, M. Amenduni, R. Artuso, J.A. Veltman, E. van Beusekom, A.R. Oudakker, J.L. Millan, R.C. Hennekam, B. HamelS.A. Courtneidge, H. van Bokhoven

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
Original language	Undefined/Unknown
Pages (from-to)	254-261
Number of pages	8
Journal	American Journal of Human Genetics
Volume	86
Issue number	2
Publication status	Published - 2010

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Cite this

Iqbal, Z., Cejudo-Martin, P., de Brouwer, A.-M., van der Zwaag, A., Ruiz-Lozano, P., Scimia, M. C., Lindsey, J. D., Weinreb, R., Albrecht, B., Megarbane, A., Alanay, Y., Ben Neriah, Z., Amenduni, M., Artuso, R., Veltman, J. A., van Beusekom, E., Oudakker, A. R., Millan, J. L., Hennekam, R. C., ... van Bokhoven, H. (2010). Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. American Journal of Human Genetics, 86(2), 254-261.

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

keywords = "Econometric and Statistical Methods: General, Geneeskunde (GENK), Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "Z. Iqbal and P. Cejudo-Martin and {de Brouwer}, A-M. and {van der Zwaag}, A. and P. Ruiz-Lozano and M.C. Scimia and J.D. Lindsey and R. Weinreb and B. Albrecht and A. Megarbane and Y. Alanay and {Ben Neriah}, Z. and M. Amenduni and R. Artuso and J.A. Veltman and {van Beusekom}, E. and A.R. Oudakker and J.L. Millan and R.C. Hennekam and B. Hamel and S.A. Courtneidge and {van Bokhoven}, H.",

year = "2010",

language = "Undefined/Unknown",

volume = "86",

pages = "254--261",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

Iqbal, Z, Cejudo-Martin, P, de Brouwer, A-M, van der Zwaag, A, Ruiz-Lozano, P, Scimia, MC, Lindsey, JD, Weinreb, R, Albrecht, B, Megarbane, A, Alanay, Y, Ben Neriah, Z, Amenduni, M, Artuso, R, Veltman, JA, van Beusekom, E, Oudakker, AR, Millan, JL, Hennekam, RC, Hamel, B, Courtneidge, SA & van Bokhoven, H 2010, 'Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome', American Journal of Human Genetics, vol. 86, no. 2, pp. 254-261.

TY - JOUR

T1 - Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

AU - Iqbal, Z.

AU - Cejudo-Martin, P.

AU - de Brouwer, A-M.

AU - van der Zwaag, A.

AU - Ruiz-Lozano, P.

AU - Scimia, M.C.

AU - Lindsey, J.D.

AU - Weinreb, R.

AU - Albrecht, B.

AU - Megarbane, A.

AU - Alanay, Y.

AU - Ben Neriah, Z.

AU - Amenduni, M.

AU - Artuso, R.

AU - Veltman, J.A.

AU - van Beusekom, E.

AU - Oudakker, A.R.

AU - Millan, J.L.

AU - Hennekam, R.C.

AU - Hamel, B.

AU - Courtneidge, S.A.

AU - van Bokhoven, H.

PY - 2010

Y1 - 2010

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Article

SN - 0002-9297

VL - 86

SP - 254

EP - 261

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -