TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Schmidts M, Hou Y, Cortes CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza J-M, van Beersum SEC, Yap ZM, Letteboer SJF, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB, UK10K. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015;[Epub ahead of print] doi:10.1038/ncomms8074