Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
Journal article published in 2018 by
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
,
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
This paper is made freely available by the publisher.
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