Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (
Miriam Schmidts,Heleen H Arts,Ernie M H F Bongers,Zhimin Yap,Machteld M Oud,Dinu Antony,Lonneke Duijkers, Richard D Emes,Jim Stalker,J L Yntema,Vincent Plagnol,Alexander Hoischen,Christian Gilissen, Elisabeth Forsythe,Ekkehart Lausch,Nel Roeleveld, Anna Kutkowskakazmierczak,Erikjan Kamsteeg, Sarah F Smithson,Raoul C M Hennekam,Peter J Scambler,Philip L Beales,Ronald Roepman mag（2013）
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genetics,missense mutation
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