A genetic analysis of Van Der Woude syndrome families Academic Article uri icon

abstract

  • Aim. To investigate the clinical phenotype and genetic characters of four Van Der Woude syndrome(VWS) families and one Popliteal pterygium syndrome (PPS) family. Methods. Clinical observation was conducted to calculate the phenotypic distribution frequency and gene frequency. Results. The phenotypic distribution frequencies were cleft palate/submucous cleft palate(82%), bilateral lip pits (52%), hypodontia (22%); The phenotypical gene frequency was about 1/50000. Conclusion. A specific modifier gene may induce the phenotypic changes of VWS and PPS, providing the molecular basis for clinical gene therapy and diagnosis in future.

published proceedings

  • Chinese Journal of Clinical Rehabilitation

author list (cited authors)

  • Wang, X., Liu, J., Xiao, M., Zhang, H., Hu, L., & Kong, X

complete list of authors

  • Wang, X||Liu, J||Xiao, M||Zhang, H||Hu, L||Kong, X

publication date

  • June 2003