Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

@inproceedings{Henderson2010BiallelicMO,
  title={Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans},
  author={Robert H H Henderson and Zheng Li and Mai M. Abd El Aziz and D. Scott Mackay and Mohammad Ali H. Eljinini and Marwan Zeidan and Anthony T Moore and Shomi Shanker Bhattacharya and Andrew R. Webster},
  booktitle={Molecular vision},
  year={2010}
}
PURPOSE To describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene. METHODS A full genome scan of members of two consanguineous families segregating an autosomal recessive retinal dystrophy was performed and regions identical by descent identified. Positional candidate genes were identified and sequenced. All patients had a detailed ophthalmic examination… CONTINUE READING