Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
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 determine...
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| Veröffentlicht in: | Journal of Medical Genetics 2016-09, Vol.53 (9), p.608-615 |
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| container_title | Journal of Medical Genetics |
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| creator | 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 |
| description | 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. |
| format | Article |
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| ispartof | Journal of Medical Genetics, 2016-09, Vol.53 (9), p.608-615 |
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| title | Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes |
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