• 1
    De Vries, J., J. L. Yntema, C. E. van Die, N. Crama, E. A. Cornelissen, and B. C. Hamel. 2010. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur. J. Pediatr. 169:7788.
  • 2
    Turkel, S. B., E. J. Diehl, and J. A. Richmond. 1985. Necropsy findings in neonatal asphyxiating thoracic dystrophy. J. Med. Genet. 22:112118.
  • 3
    Waters, A. M., and P. L. Beales. 2011. Ciliopathies: an expanding disease spectrum. Pediatr. Nephrol. 26:10391056.
  • 4
    Dagoneau, N., M. Goulet, D. Geneviève, Y. Sznajer, J. Martinovic, S. Smithson, et al. 2009. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am. J. Hum. Genet. 84:706711.
  • 5
    Bredrup, C., S. Saunier, M. M. Oud, T. Fiskerstrand, A. Hoischen, D. Brackman, et al. 2011. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am. J. Hum. Genet. 89:634643.
  • 6
    Chen, C. P., S. P. Lin, F. F. Liu, S. W. Jan, S. Y. Lin, and C. C. Lan. 1996. Prenatal diagnosis of asphyxiating thoracic dysplasia (Jeune syndrome). Am. J. Perinatol. 13:495498.
  • 7
    Hsieh, Y. Y., T. Y. Hsu, C. C. Lee, C. C. Chang, H. D. Tsai, and C. H. Tsai. 1999. Prenatal diagnosis of thoracopelvic dysplasia. A case report. J. Reprod. Med. 44:737740.
  • 8
    Schmidts, M., H. H. Arts, E. M. Bongers, Z. Yap, M. M. Oud, D. Antony, et al. 2013. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J. Med. Genet. 50:309323.
  • 9
    Davis, E. E., Q. Zhang, Q. Liu, B. H. Diplas, L. M. Davey, J. Hartley, et al. 2011. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat. Genet. 43:189196.
  • 10
    Perrault, I., S. Saunier, S. Hanein, E. Filhol, A. A. Bizet, F. Collins, et al. 2012. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am. J. Hum. Genet. 90:864870.