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

• 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.
• Konular: article
• Online Erişim: Connect to this object online.

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...