Publication
Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans
Ranad Shaheen, Hanan E. Shamseldin, Catrina M. Loucks, Mohammed Zain Seidahmed, Shinu Ansari, Mohamed Ibrahim Khalil, Nadya Al-Yacoub, Erica E. Davis, Natalie A. Mola, Katarzyna Szymanska, Warren Herridge, Albert E. Chudley, Bernard N. Chodirker, Jeremy Schwartzentruber, Jacek Majewski, Nicholas Katsanis, Coralie Poizat, Colin A. Johnson, Jillian Parboosingh, Kym M. Boycott, A. Micheil Innes, Fowzan S. Alkuraya
The American Journal of Human Genetics, January 2014, Elsevier
DOI: 10.1016/j.ajhg.2013.11.010