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

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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title = "Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome",

keywords = "clinical genetics, musculoskeletal abnormality, linkage, molecular genetics, podosome, adaptor protein",

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.}",

year = "2014",

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doi = "10.1038/ejhg.2013.229",

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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 - Sunley, Jasmine

AU - Smith, Katherine R.

AU - Pope, Kate

AU - Bromhead, Catherine J.

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.

PY - 2014/6

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KW - clinical genetics

KW - musculoskeletal abnormality

KW - linkage

KW - molecular genetics

KW - podosome

KW - adaptor protein

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