Ontology highlight
ABSTRACT:
SUBMITTER: Henderson RH
PROVIDER: S-EPMC2806159 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Henderson Robert H RH Li Zheng Z Abd El Aziz Mai M MM Mackay Donna S DS Eljinini Mohammad A MA Zeidan Marwan M Moore Anthony T AT Bhattacharya Shomi S SS Webster Andrew R AR
Molecular vision 20100115
<h4>Purpose</h4>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.<h4>Methods</h4>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 exam ...[more]