De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature

• Main Authors: Yingxiao Shen (Author), Xiaoqin Xu (Author), Jiansong Chen (Author), Jingjing Wang (Author), Guanping Dong (Author), Ke Huang (Author), Junfen Fu (Author), Dingwen Wu (Author), Wei Wu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ObjectiveTo explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations.Materials and methodsWhole exome sequencing (WES), Copy number variation sequencing (CNV-seq), and mitochondrial gene detec...