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Cellular Ciliary Phenotyping Indicates Pathogenicity of Novel Variants in IFT140 and Confirms a Mainzer–Saldino Syndrome Diagnosis

Machteld M. Oud,Brooke L. Latour,Zeineb Bakey,Stef J. Letteboer,Dorien Lugtenberg,Ka Man Wu,Elisabeth A. M. Cornelissen,Helger G. Yntema,Miriam Schmidts,Ronald Roepman,Ernie M. H. F. Bongers

Cilia（2018）

引用 27|浏览55
关键词
Mainzer–Saldino syndrome,MZSDS,SRTD9,UREC,IFT140
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