Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond

Novel approaches to uncover the molecular etiology of neurodevelopmental disorders (NDD) are highly needed. Even using a powerful tool such as whole exome sequencing (WES), the diagnostic process may still prove long and arduous due to the high clinical and genetic heterogeneity of these conditions....

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Detalles Bibliográficos
Autores principales: Barili, Valeria, Ambrosini, Enrico, Uliana, Vera, Bellini, Melissa, Vitetta, Giulia, Martorana, Davide, Cannizzaro, Ilenia Rita, Taiani, Antonietta, De Sensi, Erika, Caggiati, Patrizia, Hilton, Sarah, Banka, Siddharth, Percesepe, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297877/
https://www.ncbi.nlm.nih.gov/pubmed/37372421
http://dx.doi.org/10.3390/genes14061241

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297877/
https://www.ncbi.nlm.nih.gov/pubmed/37372421
http://dx.doi.org/10.3390/genes14061241

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