Associated Papers
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Mégarbané A et al.
European Journal of Medical Genetics, 2019
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S et al.
Human Mutation, 2014
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