@article{arnaud_hanna_aubart_leheup_dupuis-girod_naudion_lacombe_milleron_odent_faivre_et al._2016, 
  title={Homozygous and compound heterozygous mutations in the
            FBN1
            gene: unexpected findings in molecular diagnosis of Marfan syndrome}, 
  volume={54}, 
  DOI={10.1136/jmedgenet-2016-103996}, 
  publisher={BMJ}, 
  author={Arnaud and Hanna and Aubart and Leheup and Dupuis-Girod and Naudion and Lacombe and Milleron and Odent and Faivre and et al.}, 
  year={2016}, 
  month={Aug}
  }