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

Miriam Schmidts1, Yuqing Hou2, Claudio R Cortés3

  • 11] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [3] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [4] Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79112 Freiburg, Germany.

Nature Communications
|June 6, 2015
PubMed

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