Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome

• Egile Nagusiak: Hansong Yang (Egilea), Zhiyong Liu (Egilea), Dongmei Chen (Egilea), Weiru Lin (Egilea), Lin Wang (Egilea), Tianfeng Chen (Egilea), Ruiquan Wang (Egilea), Xialin Yan (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome characterized by typical facial features, severe neurodevelopmental delay, and multiple congenital abnormalities. SGS is associated with de novo pathogenic variants in the SETBP1 gene. In specific, SETBP1 variants in over 50 patient...