Joubert-like syndrome unlinked to known candidate loci - 24/08/11
Doi : 10.1016/j.jpeds.2003.11.010
Andreas R Janecke, MD ⁎ 
, Thomas Müller, MD, Ingmar Gassner, MD, Alfons Kreczy, MD, Eduard Schmid, MD, Florian Kronenberg, MD, Barbara Utermann, MD, Gerd Utermann, MD
, Thomas Müller, MD, Ingmar Gassner, MD, Alfons Kreczy, MD, Eduard Schmid, MD, Florian Kronenberg, MD, Barbara Utermann, MD, Gerd Utermann, MD From the Departments of Pediatrics and Ophthalmology, University-Hospital Innsbruck, Institutes of Medical Biology, Human Genetics, and Pathology, University of Innsbruck, Innsbruck, Austria
Reprint requests: Andreas R. Janecke, MD, Institute of Medical Biology and Human Genetics, University of Innsbruck, Schöpfstrasse 41, A-6020 Innsbruck, Austria.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.
Le texte complet de cet article est disponible en PDF.Abbreviations : COACH, CT, CVH, HBD, JS, MGDA, NPHP, SLS
Plan
 | Supported in part by grant No. FWF P-12819-GEN (to G. U.). |
© 2004
Elsevier Inc. Tous droits réservés.
Vol 144 - N° 2
P. 264-269 - février 2004 Retour au numéro
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