A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

Inherited paediatric cataract is a rare Mendelian disease that results in visual impairment or blindness due to a clouding of the eye’s crystalline lens. Here we report an Australian family with isolated paediatric cataract, which we had previously mapped to Xq24. Linkage at Xq24–25 (LOD = 2.53) was...

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Detalles Bibliográficos
Autores principales: Jones, Johanna L., Corbett, Mark A., Yeaman, Elise, Zhao, Duran, Gecz, Jozef, Gasperini, Robert J., Charlesworth, Jac C., Mackey, David A., Elder, James E., Craig, Jamie E., Burdon, Kathryn P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385038/
https://www.ncbi.nlm.nih.gov/pubmed/33867527
http://dx.doi.org/10.1038/s41431-021-00889-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8385038/
https://www.ncbi.nlm.nih.gov/pubmed/33867527
http://dx.doi.org/10.1038/s41431-021-00889-8

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