Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

@article{Brice2002AnalysisOT,
  title={Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.},
  author={Glen Brice and Sahar Mansour and Rory Bell and John Richard O Collin and Anne H. Child and Angela F. Brady and Mansoor Sarfarazi and Kevin Guiver Burnand and Stephen Jeffery and Peter Mortimer and Victoria A. Murday},
  journal={Journal of medical genetics},
  year={2002},
  volume={39 7},
  pages={478-83}
}
INTRODUCTION Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in FOXC2, a forkhead transcription factor gene. Numerous clinical associations have been reported with this condition, including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. SUBJECTS We report clinical findings in 74 affected subjects from 18 families and six… CONTINUE READING
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FOXC2 truncating mutations

R Bell, G Brice, +9 authors S. Jeffery
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