Joubert-like syndrome unlinked to known candidate loci.
case_report · Level V
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- Record sourced from PubMed, PMID 14760273.
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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.
Medical subject headings
- Optic Disk
- Optic Nerve Diseases
- Polycystic Kidney Diseases