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 (6 May, 2016)
    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