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