Brittle cornea syndrome: recognition, molecular diagnosis and management

Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in affected patients. Two genes, ZNF469 and PRDM5, have now been identified, in which causati...

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Detalles Bibliográficos
Autores principales: Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006/
https://www.ncbi.nlm.nih.gov/pubmed/23642083
http://dx.doi.org/10.1186/1750-1172-8-68

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006/
https://www.ncbi.nlm.nih.gov/pubmed/23642083
http://dx.doi.org/10.1186/1750-1172-8-68

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