?url_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.aufirst=M&rft.aulast=Schmidts&rft.au=Schmidts%2C+M&rft.volume=50&rft.issue=5&rft.atitle=Exome+sequencing+identifies+DYNC2H1+mutations+as+a+common+cause+of+asphyxiating+thoracic+dystrophy+(Jeune+syndrome)+without+major+polydactyly%2C+renal+or+retinal+involvement.&rft.title=J+Med+Genet&rft.issn=0022-2593&rft.date=May+2013&rft.pages=309+-+323&rft.genre=article