Crossmark

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

Crossref DOI link: https://doi.org/10.1186/s13630-018-0055-2

Published Online: 2018-02-23

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Oud, Machteld M. http://orcid.org/0000-0003-4864-9346
Latour, Brooke L.

Bakey, Zeineb

Letteboer, Stef J.

Lugtenberg, Dorien

Wu, Ka Man

Cornelissen, Elisabeth A. M.

Yntema, Helger G.

Schmidts, Miriam

Roepman, Ronald

Bongers, Ernie M. H. F.
Funding

Funding for this research was provided by:

Nierstichting (CP11.18)

Nederlandse Organisatie voor Wetenschappelijk Onderzoek (Vici-865.12.005)

European Research Council (M716344)

Deutsche Forschungsgemeinschaft (CRC-1140 KIDGEM)

Radboud Universitair Medisch Centrum (Hypatia tenure track fellowship)

radboud institute for molecular life sciences (Hypatia tenure track fellowship)
More Information

Article History

Received: 3 April 2017

Accepted: 27 January 2018

First Online: 23 February 2018