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 journalArticleAcademicpeer-review

22 Citations (Web of Science)
Original languageEnglish
Pages (from-to)741-747
JournalEuropean Journal of Human Genetics
Issue number6
Publication statusPublished - Jun 2014


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

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