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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Asıl Yazarlar: Chunyan Jin (Yazar), Hua Qian (Yazar), Tianhui Xu (Yazar), Jiao Chen (Yazar), Xuefang Li (Yazar), Zhiping Gu (Yazar)
Materyal Türü: Kitap
Baskı/Yayın Bilgisi: Elsevier, 2021-11-01T00:00:00Z.
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3rd Floor Main Library

Detaylı Erişim Bilgileri 3rd Floor Main Library
Yer Numarası: A1234.567
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