Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Journal Of Medical Genetics
Schmidts, Miriam M; Arts, Heleen H HH; Bongers, Ernie M H F EM; Yap, Zhimin Z; Oud, Machteld M MM; Antony, Dinu D; Duijkers, Lonneke L; Emes, Richard D RD; Stalker, Jim J; Yntema, Jan-Bart L JB; Plagnol, Vincent V; Hoischen, Alexander A; Gilissen, Christian C; Forsythe, Elisabeth E; Lausch, Ekkehart E; Veltman, Joris A JA; Roeleveld, Nel N; Superti-Furga, Andrea A; Kutkowska-Kazmierczak, Anna A; Kamsteeg, Erik-Jan EJ; Elçioğlu, Nursel N; van Maarle, Merel C MC; Graul-Neumann, Luitgard M LM; Devriendt, Koenraad K; Smithson, Sarah F SF; Wellesley, Diana D; Verbeek, Nienke E NE; Hennekam, Raoul C M RC; Kayserili, Hulya H; Scambler, Peter J PJ; Beales, Philip L PL; , ; Knoers, Nine Vam NV; Roepman, Ronald R; Mitchison, Hannah M HM