Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

چکیده

Inherited retinal dystrophies (IRDs) are a genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis,…

متن کامل چکیده در سایت ناشر در دسترس است.

موضوعات مرتبط

• چشم پزشکی کودکان
• شبکیه