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

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)741-747
JournalEuropean Journal of Human Genetics
Volume22
Issue number6
DOIs
Publication statusPublished - Jun 2014

Keywords

  • clinical genetics
  • musculoskeletal abnormality
  • linkage
  • molecular genetics
  • podosome
  • adaptor protein

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