Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
scientific article (publication date: May 2013)
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author: Hülya Kayserili, Andrea Superti-Furga, Richard Emes, Miriam Schmidts, Christian Gilissen, Vincent Plagnol, Peter J Scambler, Anna Kutkowska-Kazmierczak, Joris A Veltman, Alexander Hoischen, Luitgard Graul-Neumann, Klaudia Walter, Raoul Hennekam, Jim Stalker, Hannah M Mitchison, Nel Roeleveld, Ernie M H F Bongers, Erik-Jan Kamsteeg
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