Table of contents

September 2016 - Volume 53 - 9

Immunogenetics

Copy-number variation

Developmental defects

  • Original article: Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
    Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente

Genotype-phenotype correlations

Somatic mosaicism