Genotypes and phenotypes of Joubert syndrome and related disorders
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference76 articles.
1. Joubert's syndrome. Apropos of 5 cases;Aicardi;Arch. Fr. Pediatr.,1983
2. History of Joubert syndrome and a 30-year follow-up of the original proband;Andermann;J. Child Neurol.,1999
3. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome;Arts;Nat. Genet.,2007
4. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome;Baala;Am. J. Hum. Genet.,2007
5. The Meckel–Gruber syndrome gene, MKS3, is mutated in Joubert syndrome;Baala;Am. J. Hum. Genet.,2007
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