Associated Papers
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom SA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
31879347 (PubMed )
Supplement: pnas.1912602117.sapp.pdf
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer JA et al.
Nature Genetics, 2006
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