Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Gabrielle R. Wilson; Jasmine Sunley; Katherine R. Smith; Kate Pope; Catherine J. Bromhead; Elizabeth Fitzpatrick; Maja Di Rocco; Maurice van Steensel; David J. Coman; Richard J. Leventer; Martin B. Delatycki; David J. Amor; Melanie Bahlo; Paul J. Lockhart

doi:10.1038/ejhg.2013.229

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Gabrielle R. Wilson, Jasmine Sunley, Katherine R. Smith, Kate Pope, Catherine J. Bromhead, Elizabeth Fitzpatrick, Maja Di Rocco, Maurice van Steensel, David J. Coman, Richard J. Leventer, Martin B. Delatycki, David J. Amor, Melanie Bahlo, Paul J. Lockhart^*

^*Corresponding author for this work

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

22 Citations (Web of Science)

Original language	English
Pages (from-to)	741-747
Journal	European Journal of Human Genetics
Volume	22
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2013.229
Publication status	Published - Jun 2014

Keywords

clinical genetics
musculoskeletal abnormality
linkage
molecular genetics
podosome
adaptor protein

Access to Document

10.1038/ejhg.2013.229

Cite this

Wilson, G. R., Sunley, J., Smith, K. R., Pope, K., Bromhead, C. J., Fitzpatrick, E., Di Rocco, M., van Steensel, M., Coman, D. J., Leventer, R. J., Delatycki, M. B., Amor, D. J., Bahlo, M., & Lockhart, P. J. (2014). Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. European Journal of Human Genetics, 22(6), 741-747. https://doi.org/10.1038/ejhg.2013.229

Wilson, Gabrielle R. ; Sunley, Jasmine ; Smith, Katherine R. ; Pope, Kate ; Bromhead, Catherine J. ; Fitzpatrick, Elizabeth ; Di Rocco, Maja ; van Steensel, Maurice ; Coman, David J. ; Leventer, Richard J. ; Delatycki, Martin B. ; Amor, David J. ; Bahlo, Melanie ; Lockhart, Paul J. / Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. In: European Journal of Human Genetics. 2014 ; Vol. 22, No. 6. pp. 741-747.

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author = "Wilson, {Gabrielle R.} and Jasmine Sunley and Smith, {Katherine R.} and Kate Pope and Bromhead, {Catherine J.} and Elizabeth Fitzpatrick and {Di Rocco}, Maja and {van Steensel}, Maurice and Coman, {David J.} and Leventer, {Richard J.} and Delatycki, {Martin B.} and Amor, {David J.} and Melanie Bahlo and Lockhart, {Paul J.}",

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Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. / Wilson, Gabrielle R.; Sunley, Jasmine; Smith, Katherine R.; Pope, Kate; Bromhead, Catherine J.; Fitzpatrick, Elizabeth; Di Rocco, Maja; van Steensel, Maurice; Coman, David J.; Leventer, Richard J.; Delatycki, Martin B.; Amor, David J.; Bahlo, Melanie; Lockhart, Paul J.

In: European Journal of Human Genetics, Vol. 22, No. 6, 06.2014, p. 741-747.

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

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AU - Fitzpatrick, Elizabeth

AU - Di Rocco, Maja

AU - van Steensel, Maurice

AU - Coman, David J.

AU - Leventer, Richard J.

AU - Delatycki, Martin B.

AU - Amor, David J.

AU - Bahlo, Melanie

AU - Lockhart, Paul J.

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