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Schmidts M, Arts HH, Bongers EMHF, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JL, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg E, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RCM, Kayserili H, Scambler PJ, Beales PL, Knoers NV, Roepman R, Mitchison HM. Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 Mar 01;50(5):309–23. doi: 10.1136/jmedgenet-2012-101284. |