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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2013
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| Materias: | |
| 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 |