Article
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Human mutation - 1 May 2013
Schmidts Miriam, Frank Valeska, Eisenberger Tobias, Al Turki Saeed, Bizet Albane A, Antony Dinu, Rix Suzanne, Decker Christian, Bachmann Nadine, Bald Martin, Vinke Tobias, Toenshoff Burkhard, Di Donato Natalia, Neuhann Theresa, Hartley Jane L, Maher Eamonn R, Bogdanović Radovan, Peco-Antić Amira, Mache Christoph, Hurles Matthew E, Joksić Ivana, Guć-Šćekić Marija, Dobricic Jelena, Brankovic-Magic Mirjana, Bolz Hanno J, Pazour Gregory J, Beales Philip L, Scambler Peter J, Saunier Sophie, Mitchison Hannah M, Bergmann Carsten
Abstract excerpt
Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib-polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer-Saldino chondrodysplasia syndromes. These three syndromes are...
Topics
- Animals
- Biological Transport
- Cerebellar Ataxia
- Child
- Cilia
- Cohort Studies
- Disease Progression
- Exome