Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

BACKGROUND: 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...

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Veröffentlicht in:J Med Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2016
Schlagworte:
Developmental Defects
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5013089/
https://ncbi.nlm.nih.gov/pubmed/27208211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103832
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