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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2013
Gaiak:
Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3659006/
https://ncbi.nlm.nih.gov/pubmed/23642083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-68
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