Title: Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Authors: Roosing, Susanne ×
Romani, Marta
Isrie, Mala
Rosti, Rasim Ozgur
Micalizzi, Alessia
Musaev, Damir
Mazza, Tommaso
Al-Gazali, Lihadh
Altunoglu, Umut
Boltshauser, Eugen
D'Arrigo, Stefano
De Keersmaecker, Bart
Kayserili, Hülya
Brandenberger, Sarah
Kraoua, Ichraf
Mark, Paul R
McKanna, Trudy
Van Keirsbilck, Joachim
Moerman, Philippe
Poretti, Andrea
Puri, Ratna
Van Esch, Hilde
Gleeson, Joseph G
Valente, Enza Maria #
Issue Date: Sep-2016
Publisher: BMJ Publishing Group
Series Title: Journal of Medical Genetics vol:53 issue:9
Article number: jmedgenet-2016-103832
Abstract: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Cognition
Studiegebied Gezondheidszorg VIVES-Zuid
Studiegebied Gezondheidszorg - VIVES Noord
Translational Cell & Tissue Research
× corresponding author
# (joint) last author

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