Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation sequencing has shown a high diagnostic potential. The aim of this work was to evaluate the diagnostic yield of clinical exome sequencing in 188 ID patients a...

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Detalles Bibliográficos
Autores principales: Ballesta-Martínez, María Juliana, Pérez-Fernández, Virginia, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Rodríguez-Peña, Lidia Isolina, Barreda-Sánchez, Maria, Armengol-Dulcet, Lluís, Guillén-Navarro, Encarna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362575/
https://www.ncbi.nlm.nih.gov/pubmed/37480025
http://dx.doi.org/10.1186/s13023-023-02809-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362575/
https://www.ncbi.nlm.nih.gov/pubmed/37480025
http://dx.doi.org/10.1186/s13023-023-02809-z

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