AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

@article{Parisi2006AHI1MC,
  title={AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.},
  author={Melissa A Parisi and Dan G. Doherty and Melissa L Eckert and Dennis W. W. Shaw and Hamit Ozyurek and Sabiha Aysun and Ozlem Giray and Abdulrahman Al Swaid and Sami Al Shahwan and N Dohayan and Eman Abdulkarim Bakhsh and Olafur Sk{\'u}li Indridason and William B Dobyns and Craig L. Bennett and Phillip F. Chance and Ian A Glass},
  journal={Journal of medical genetics},
  year={2006},
  volume={43 4},
  pages={334-9}
}
BACKGROUND Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1). METHODS We screened a cohort of 117 JS subjects for AHI1 mutations by a combination of haplotype analysis and sequencing of the gene, and for the homozygous NPHP1… CONTINUE READING
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AHI1 in Joubert syndrome

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