Low disease risk and penetrance in Leber hereditary optic neuropathy

The risk of Leber hereditary optic neuropathy (LHON) has largely been extrapolated from disease cohorts, which underestimate the population prevalence of pathogenic primary LHON variants as a result of incomplete disease penetrance. Understanding the true population prevalence of primary LHON varian...

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Detalles Bibliográficos
Autores principales: Watson, Eloise C., Davis, Ryan L., Ravishankar, Shyamsundar, Copty, Joseph, Kummerfeld, Sarah, Sue, Carolyn M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Matters Arising
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892766/
https://www.ncbi.nlm.nih.gov/pubmed/36565700
http://dx.doi.org/10.1016/j.ajhg.2022.11.013

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