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Joubert syndrome 38
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- ... encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub ...
- ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, ... and breathing problems. The OFD1 mutations responsible for Joubert syndrome lead to the production of an abnormally short ...
