Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

UK10K Consortium, Jan Halbritter, Albane A Bizet, Miriam Schmidts, Jonathan D Porath, Daniela A Braun, Heon Yung Gee, Aideen M McInerney-Leo, Pauline Krug, Emilie Filhol, Erica E Davis, Rannar Airik, Peter G Czarnecki, Anna M Lehman, Peter Trnka, Patrick Nitschké, Christine Bole-Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane BurteyAttila J Szabó, Kálmán Tory, Paul J Leo, Brooke Gardiner, Fiona A McKenzie, Andreas Zankl, Matthew A Brown, Jane L Hartley, Eamonn R Maher, Chunmei Li, Michel R Leroux, Peter J Scambler, Shing H Zhan, Steven J Jones, Hülya Kayserili, Beyhan Tuysuz, Khemchand N Moorani, Alexandru Constantinescu, Ian D Krantz, Bernard S Kaplan, Jagesh V Shah, Toby W Hurd, Dan Doherty, Nicholas Katsanis, Emma L Duncan, Edgar A Otto, Philip L Beales, Hannah M Mitchison, Sophie Saunier, Friedhelm Hildebrandt

Research output: Contribution to journal › Article › peer-review

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Medicine & Life Sciences