AI Article Synopsis
- The study discusses three patients from a closely related family who have Joubert syndrome (JS) paired with specific eye and kidney abnormalities.
- Researchers ruled out three potential gene locations for JS, suggesting that the condition in these patients is different.
- This indicates a new autosomal recessive disorder that is separate from Joubert syndrome and similar related disorders.
Article 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.
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| http://dx.doi.org/10.1016/j.jpeds.2003.11.010 | DOI Listing |
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