Ontology highlight
ABSTRACT:
SUBMITTER: Brancati F
PROVIDER: S-EPMC1950920 | biostudies-literature | 2007 Jul
REPOSITORIES: biostudies-literature
American journal of human genetics 20070518 1
Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Loken syndrome (JSRD-SLS phenotype). Here, we performed ...[more]