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 autosoma...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.