Clinical course of cone dystrophy caused by mutations in the RPGR gene

BACKGROUND: Mutations in the RPGR gene predominantly cause rod photoreceptor disorders with a large variability in clinical course. In this report, we describe two families with mutations in this gene and cone involvement. METHODS: We investigated an X-linked cone dystrophy family (1) with 25 affect...

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Detalhes bibliográficos
Main Authors: Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2011
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3178018/
https://ncbi.nlm.nih.gov/pubmed/21866333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00417-011-1789-3
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