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...

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Detalles Bibliográficos
Autores principales: Weng, Chunhua, Chen, Fangyi, Ahimaz, Priyanka, Wang, Kai, Chung, Wendy, Ta, Casey, Liu, Cong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Article
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

Internet

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

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