Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

@article{Chassaing2009PhenotypicSO,
  title={Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.},
  author={Nicolas Chassaing and Christelle Golzio and Sylvie Odent and L{\'e}opoldine Lequeux and Adeline Vigouroux and Jelena Martinovic-Bouriel and Francesco Danilo Tiziano and Lucia Masini and Francesca Romana Piro and Giovanna Maragliano and Anne-lise Delezoide and Tania Atti{\'e}-Bitach and Sylvie Manouvrier-Hanu and Heather C Etchevers and Patrick Calvas},
  journal={Human mutation},
  year={2009},
  volume={30 5},
  pages={E673-81}
}
Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma retinol binding protein, have been identified in such patients. We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two… CONTINUE READING