A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes

Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is an inherited condition leading to vision loss, affecting 1 in 3500 people. More than 270 genes are known to be implicated in the inherited retinal degenerations (IRDs), yet genetic diagnosis for ∼30% of IRD of patients remains elusive...

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Detalles Bibliográficos
Autores principales: Scott, Hilary A., Larson, Anna, Rong, Shi Song, Mehrotra, Sudeep, Butcher, Rossano, Chao, Katherine R., Wiggs, Janey L., Place, Emily M., Pierce, Eric A., Bujakowska, Kinga M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958919/
https://www.ncbi.nlm.nih.gov/pubmed/34728537
http://dx.doi.org/10.1101/mcs.a006131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958919/
https://www.ncbi.nlm.nih.gov/pubmed/34728537
http://dx.doi.org/10.1101/mcs.a006131

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