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

Author
De, Keersmaecker
D'ARRIGO, S
KAYSERILI, H
BRANDENBERGER, S
KRAOUA, I
MARK, PR
MCKANNA, T
Van, Keirsbilck
MOERMAN, P
PORETTI, A
PURI, R
Van, Esch
GLEESON, JG
VALENTE, EM
ROOSING, S
ROMANI, M
ISRIE, M
MICALIZZI, A
Altunoglu, UMUT
ROSTI, Rasim Özgür
MUSAEV, D
MAZZA, T
AL-GAZALI, L
BOLTSHAUSER, E
Metadata
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URI
http://hdl.handle.net/20.500.12627/143444
https://doi.org/10.1136/jmedgenet-2016-103832
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