CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders
- 1 July 2007
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 81 (1) , 104-113
- https://doi.org/10.1086/519026
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotypeHuman Mutation, 2007
- Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical PolymicrogyriaAmerican Journal of Human Genetics, 2004
- Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndromeNature Genetics, 2004
- The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert SyndromeAmerican Journal of Human Genetics, 2004
- Hedgehog signalling in the mouse requires intraflagellar transport proteinsNature, 2003
- Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndromeNature, 2003
- Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth MalformationAmerican Journal of Human Genetics, 2003
- Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3American Journal of Human Genetics, 2003
- Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromesAmerican Journal of Medical Genetics Part A, 2003
- Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic HeterogeneityAmerican Journal of Human Genetics, 1999