Pathogenic genetic variants identified in Australian families with paediatric cataract

OBJECTIVE: Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variants likely to be causative of disease in an Austral...

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Detalles Bibliográficos
Autores principales: Jones, Johanna L, McComish, Bennet J, Staffieri, Sandra E, Souzeau, Emmanuelle, Kearns, Lisa S, Elder, James E, Charlesworth, Jac C, Mackey, David A, Ruddle, Jonathan B, Taranath, Deepa, Pater, John, Casey, Theresa, Craig, Jamie E, Burdon, Kathryn P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422809/
https://www.ncbi.nlm.nih.gov/pubmed/36161833
http://dx.doi.org/10.1136/bmjophth-2022-001064

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422809/
https://www.ncbi.nlm.nih.gov/pubmed/36161833
http://dx.doi.org/10.1136/bmjophth-2022-001064

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