Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy

BACKGROUND: A pediatric patient presented with rapidly progressive vision loss, nyctalopia and retinal dystrophy. This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene. The child became legally blind within a period of 2 years. CASE PRESENTATION: An eight year-old H...

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Detalles Bibliográficos
Autores principales: Ortube, Maria Carolina, Strom, Samuel P, Nelson, Stanley F, Nusinowitz, Steven, Martinez, Ariadna, Gorin, Michael B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905103/
https://www.ncbi.nlm.nih.gov/pubmed/24444108
http://dx.doi.org/10.1186/1471-2350-15-11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905103/
https://www.ncbi.nlm.nih.gov/pubmed/24444108
http://dx.doi.org/10.1186/1471-2350-15-11

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