Article
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
Molecular vision - 15 Jan 2010
Henderson Robert H, Li Zheng, Abd El Aziz Mai M, Mackay Donna S, Eljinini Mohammad A, Zeidan Marwan, Moore Anthony T, Bhattacharya Shomi S, Webster Andrew R
Abstract excerpt
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...
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