Article
Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report.
European journal of medical genetics - 1 Oct 2023
Dong Ping, Zhang Nan, Zhang Ying, Liu Chun-Xue, Li Chun-Lan
Abstract excerpt
BACKGROUND: Silver-Russell syndrome (SRS) is a rare genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Loss of methylation on chromosome 11p15 and maternal uniparental disomy on chromosome 7 (upd(7)mat) are two common causes, accounting for approximately 50% and 10% of all patients, respectively. Pathogenic variants of genes, such as HMGA2, IGF2, CDKN1C, and PLAG1, have...
Topics
- Female
- Humans
- DNA-Binding Proteins
- Mutation
- Phenotype
- Silver-Russell Syndrome
- Child, Preschool