Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome

• Main Authors: Zhuo Ren (Author), Ling Yue (Author), Hua-ying Hu (Author), Xiao-lin Hou (Author), Wen-qi Chen (Author), Ya Tan (Author), Zhe Dong (Author), Jing Zhang (Author)
• Format: Book
• Published: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Objective Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is often associated with haploinsufficiency of the nuclear receptor-binding...