Search
Results: 1
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Miriam Schmidts, Yuqing Hou, Claudio R Cortés, Dorus A Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia EC van Beersum, Zhi Min Yap, Stef JF Letteboer, S Paige Taylor, Warren Herridge, Colin A Johnson, Peter J Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M King, UK10K, Philip L Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M Mitchison, George B Witman
Jun 25, 2018
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2...