1.
J Pediatr
; 144(2): 264-9, 2004 Feb.
Article
in English
| MEDLINE
| ID: mdl-14760273
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.