DOI:
10.1055/s-00029030
Journal of Pediatric Neurology
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References
Bachmann-Gagescu R, Dempsey JC, Phelps IG. et al; University of Washington Center for Mendelian Genomics.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
J Med Genet 2015;
52 (08) 514-522
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