EFNB1 mutation at the ephrin ligand‐receptor dimerization interface in a patient with craniofrontonasal syndrome

@article{Torii2007EFNB1MA,
  title={EFNB1 mutation at the ephrin ligand‐receptor dimerization interface in a patient with craniofrontonasal syndrome},
  author={Chiharu Torii and Kosuke Izumi and Hideo Nakajima and Takao Takahashi and Kenjiro Kosaki},
  journal={Congenital Anomalies},
  year={2007},
  volume={47}
}
ABSTRACT  Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin‐B1 gene (EFNB1). The study of naturally occurring human EFNB1 mutations offers a unique opportunity to better define the critical portion within the ephrin domain that is essential for the function of EFNB1 protein in craniofacial development. Here, we report a CFNS patient with a novel EFNB1 missense… 

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