The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Author:

Parisi Melissa A.,Bennett Craig L.,Eckert Melissa L.,Dobyns William B.,Gleeson Joseph G.,Shaw Dennis W.W.,McDonald Ruth,Eddy Allison,Chance Phillip F.,Glass Ian A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference49 articles.

1. Nephronophthisis;Antignac,1998

2. Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B;Apostolou;Nephrol Dial Transplant,2001

3. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome;Beales;Am J Hum Genet,2003

4. Clinical and genetic aspects of the Joubert syndrome: a disorder characterised by cerebellar vermian hypoplasia and accompanying brainstem malformations;Bennett;Curr Genomics,2003

5. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis;Betz;J Pediatr,2000

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