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

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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3. The ciliopathies: an emerging class of human genetic disorders;Badano;Annu. Rev. Genomics Hum. Genet.,2006

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