The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

@article{Makarov2009TheIO,
  title={The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function},
  author={Roman Makarov and Bernhard Steiner and Zoran Gucev and Velibor Tasic and Peter F Wieacker and Ilse Wieland},
  journal={BMC Medical Genetics},
  year={2009},
  volume={11},
  pages={98 - 98}
}
BackgroundMutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inactivation in heterozygous females and the consequences of cellular interference of wild type and mutant EFNB1-expressing cell populations. EFNB1 encodes the transmembrane protein… 

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