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

• Egile Nagusiak: Chunyan Jin (Egilea), Hua Qian (Egilea), Tianhui Xu (Egilea), Jiao Chen (Egilea), Xuefang Li (Egilea), Zhiping Gu (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2021-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...