Genetic and phenotypic heterogeneity in pattern dystrophy

Background: The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which pr...

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Autores principales: Francis, P J, Schultz, D W, Gregory, A M, Schain, M B, Barra, R, Majewski, J, Ott, J, Acott, T, Weleber, R G, Klein, M L
Formato: Artigo
Lenguaje:Inglês
Publicado: Copyright 2005 British Journal of Ophthalmology 2005
Materias:
Clinical Science - Scientific Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1772799/
https://ncbi.nlm.nih.gov/pubmed/16113362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2004.062695
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