Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders

BACKGROUND: Neurodevelopmental disorders, a group of early‐onset neurological disorders with significant clinical and genetic heterogeneity, remain a diagnostic challenge for clinical genetic evaluation. Therefore, we assessed the diagnostic yield by combining standard phenotypes and whole‐exome seq...

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Detalles Bibliográficos
Autores principales: Wang, Qingqing, Tang, Xia, Yang, Ke, Huo, Xiaodong, Zhang, Hui, Ding, Keyue, Liao, Shixiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034680/
https://www.ncbi.nlm.nih.gov/pubmed/35266334
http://dx.doi.org/10.1002/mgg3.1918

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034680/
https://www.ncbi.nlm.nih.gov/pubmed/35266334
http://dx.doi.org/10.1002/mgg3.1918

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