Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.

@article{Holden2006FanconiAC,
  title={Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.},
  author={Simon T Holden and James J Cox and Ian Kesterton and Nick S. T. Thomas and Christopher Carr and C Geoffrey Woods},
  journal={Journal of medical genetics},
  year={2006},
  volume={43 9},
  pages={750-4}
}
BACKGROUND The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL-H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL-H syndrome are not known. OBJECTIVE To determine if mutations in FANCB, which are known to cause Fanconi anaemia complementation group B, are a cause of X linked VACTERL-H syndrome. METHODS A three… CONTINUE READING