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Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)

Abstract Background Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerg...

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Principais autores: Ying Dai, Yongjuan Wei, Yuanyuan Chen, Hui Guo, Min Zhong
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2020-08-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
balanced translocation
copy number variations
intellectual disability
miscarriage
whole‐exome sequencing
Online adgang:https://doi.org/10.1002/mgg3.1335
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