Individual phenotypic variances in a family with Avellino corneal dystrophy

BACKGROUND: Avellino corneal dystrophy (ACD) is an autosomal dominant disorder, characterized by the presence of deposits in the anterior stroma, and results from a specific mutation (R124H) in the transforming growth factor beta-induced gene (TGFBI). This report presents corneal dystrophy of the Bo...

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Detalles Bibliográficos
Autores principales: Abazi, Zihret, Magarasevic, Lidija, Grubisa, Ivana, Risovic, Dusica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708762/
https://www.ncbi.nlm.nih.gov/pubmed/23837658
http://dx.doi.org/10.1186/1471-2415-13-30

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708762/
https://www.ncbi.nlm.nih.gov/pubmed/23837658
http://dx.doi.org/10.1186/1471-2415-13-30

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