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Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders
Rare disease patients often endure prolonged diagnostic odysseys and may still remain undiagnosed for years. Selecting the appropriate genetic tests is crucial to lead to timely diagnosis. Phenotypic features offer great potential for aiding genomic diagnosis in rare disease cases. We see great prom...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Journal Experts
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690317/ https://www.ncbi.nlm.nih.gov/pubmed/38045411 http://dx.doi.org/10.21203/rs.3.rs-3593490/v1 |