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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...
Autores principales: | Wang, Qingqing, Tang, Xia, Yang, Ke, Huo, Xiaodong, Zhang, Hui, Ding, Keyue, Liao, Shixiu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
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 |
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