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Joubert-like syndrome unlinked to known candidate loci
Andreas R Janecke1, Thomas Müller, Ingmar Gassner
1Departments of Pediatrics and Ophthalmology, University-Hospital Innsbruck, Institutes of Medical Biology, Human Genetics, and Pathology, University of Innsbruck, Innsbruck, Austria. janecke@uibk.ac.at
The Journal of Pediatrics
|February 5, 2004
Abstract:
We observed the Joubert syndrome (JS) associated with bilateral morning glory disk anomaly and cystic dysplastic kidneys in three patients from a consanguineous kindred. Homozygosity mapping excluded three JS candidate loci as sites harboring the disease gene. We thus delineate an autosomal recessive disorder, distinct from JS and related conditions.