Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

PURPOSE: To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2. OBSERVATIONS: A healthy father and daughter of East African heritage experienc...

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Detalles Bibliográficos
Autores principales: Brodsky, Michael C., Olson, Rory J., Asumda, Faizal Z., Lopour, Madeline Q.R., Schimmenti, Lisa A., Klee, Eric W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10038781/
https://www.ncbi.nlm.nih.gov/pubmed/36974169
http://dx.doi.org/10.1016/j.ajoc.2023.101825

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