AIMC Topic: Ciliopathies
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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Human genetics
Aug 26, 2021
Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve clinical and molecular SRDs diagnosis, by applying a structured pheno...
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