Article
New clinical and molecular insights into Silver-Russell syndrome.
Current opinion in pediatrics - 1 Aug 2016
Giabicani Eloïse, Netchine Irène, Brioude Frédéric
Abstract excerpt
PURPOSE OF REVIEW: The purpose of review is to summarize new outcomes for the clinical characterization, molecular strategies, and therapeutic management of Silver-Russell syndrome (SRS). RECENT FINDINGS: Various teams have described the clinical characteristics of SRS patients by genotype. A clinical score for the definition of SRS and for orienting molecular investigations has emerged. Insulin-like growth...
Topics
- Abnormalities, Multiple
- DNA Methylation
- Genetic Counseling
- Genomic Imprinting
- Humans
- Insulin-Like Growth Factor II
- Phenotype
- Practice Guidelines as Topic
- Silver-Russell Syndrome
