CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
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Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18.
Am J Hum Genet. 2007.
PMID: 17564967
Free PMC article.