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Article

Distinguishing the four genetic causes of jouberts syndrome–related disorders

22 Mar 2005

Abstract excerpt

Jouberts syndrome-related disorders are a group of recessively inherited conditions showing cerebellar vermis hypoplasia and the molar tooth sign of the midbrain-hindbrain junction. Recent analyses have suggested at least three loci, JBTS1 (9q34.3), -2 (11p11.2-q12.3), and -3 (6q23), but the phenotypic spectrum associated with each locus has not been delineated. In addition, deletions of the NPHP1 gene, usually...

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PMID: 15786477
DOI: 10.1002/ana.20422

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