Prenatal diagnosis by whole exome sequencing in a family with a novel TBR1 mutation causing intellectual disability

Objective: To provide prenatal diagnosis for a pregnant woman with genetic history of intellectual disability. Case report: A Chinese pedigree with intellectual disability was collected in this study. Cytogenetic analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) follow...

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Main Authors: Chunyan Jin (Author), Hua Qian (Author), Tianhui Xu (Author), Jiao Chen (Author), Xuefang Li (Author), Zhiping Gu (Author)
Format: Book
Published: Elsevier, 2021-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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