Article
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
European journal of medical genetics - 1 Jan 2000
Kroes Hester Y, van Zon Patrick H A, Fransen van de Putte Dietje, Nelen Marcel R, Nievelstein Rutger-Jan, Wittebol-Post Dienke, van Nieuwenhuizen Onno, Mancini Grazia M S, van der Knaap Marjo S, Kwee Mei Lan, Maas Saskia M, Cobben Jan Maarten, De Nef Jacques E E, Lindhout Dick, Sinke Richard J
Abstract excerpt
Joubert syndrome (JBS) is a clinically variable and genetically heterogeneous developmental brain disorder with autosomal recessive inheritance. Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIP1L, and two additional loci on chromosome 9 and 11 have been identified so far. The relative contributions of AHI1 mutations and NPHP1 deletions have not yet been determined in a population-based JBS patient cohort. We...
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