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Joubert syndrome 18
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- ... frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18. Citation on PubMed or Free article on PubMed ...
- ... 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 ...
- ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...