Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Miriam Schmidts, Heleen H Arts, Ernie M H F Bongers, Zhimin Yap, Machteld M Oud, Dinu Antony, Lonneke Duijkers, Richard D Emes, Jim Stalker, Jan-Bart L Yntema, Vincent Plagnol, Alexander Hoischen, Christian Gilissen, Elisabeth Forsythe, Ekkehart Lausch, Joris A Veltman, Nel Roeleveld, Andrea Superti-Furga, Anna Kutkowska-Kazmierczak, Erik-Jan Kamsteeg, Nursel Elçioğlu, Merel C van Maarle, Luitgard M Graul-Neumann, Koenraad Devriendt, Sarah F Smithson, Diana Wellesley, Nienke E Verbeek, Raoul C M Hennekam, Hulya Kayserili, Peter J Scambler, Philip L Beales, Nine VAM Knoers, Ronald Roepman, Hannah M Mitchison
Journal of Medical Genetics May 2013, 50 (5) 309-323; DOI: 10.1136/jmedgenet-2012-101284