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Joubert syndrome 29
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- ... cause Meckel-Gruber syndrome. Hum Mutat. 2008 Jan;29(1):45-52. doi: ... in patients with Joubert syndrome and Senior-Loken syndrome. J Med Genet. 2007 ...
- ... 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 ...
