Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy

PURPOSE: To describe the phenotype of a family with an autosomal dominant macular dystrophy and identify the chromosomal location of the gene that causes this phenotype. METHODS: Twelve members of a three-generation family underwent routine clinical examination, including fundus photography. Four of...

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Detalles Bibliográficos
Autores principales: Rosenberg, Thomas, Roos, Ben, Johnsen, Thorkild, Bech, Niels, Scheetz, Todd E., Larsen, Michael, Stone, Edwin M., Fingert, John H.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002954/
https://www.ncbi.nlm.nih.gov/pubmed/21179233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002954/
https://www.ncbi.nlm.nih.gov/pubmed/21179233

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