A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

@article{Franco1995ACO,
  title={A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy},
  author={Brunella Franco and Germana Meroni and Giancarlo Parenti and Jacqueline Levilliers and Loris Bernard and Marinella Gebbia and Liza L Cox and Pierre Maroteaux and Leslie Sheffield and Gudrun A Rappold and Generoso Andria and Christine Petit and Andrea Ballabio},
  journal={Cell},
  year={1995},
  volume={81},
  pages={15-25}
}
X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. A virtually identical phenotype is observed in the warfarin embryopathy, which is due to the teratogenic effects of coumarin derivatives during pregnancy. We have cloned the genomic region within Xp22.3 where the CDPX gene has been assigned and isolated three… CONTINUE READING

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