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

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Authors: 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

Journal title: Cilia

Journal number: 7/1

Journal publisher: BMC Springer Nature

Published year: 2018

DOI identifier: 10.1186/s13630-018-0055-2

ISSN: 2046-2530