Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract

BACKGROUND: Cataract is a major cause of childhood blindness worldwide. The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric cataract displaying variable phenotypes. CASE PRESENTATION: Fifty-one genes im...

Descripción completa

Detalles Bibliográficos
Autores principales: Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Pater, John, Casey, Theresa, Hodson, Trevor, Burdon, Kathryn P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750205/
https://www.ncbi.nlm.nih.gov/pubmed/26867756
http://dx.doi.org/10.1186/s13104-016-1890-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750205/
https://www.ncbi.nlm.nih.gov/pubmed/26867756
http://dx.doi.org/10.1186/s13104-016-1890-0

Ejemplares similares