No Evidence for Mutations of CTCFL/BORIS in Silver-Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation

BACKGROUND: Silver-Russell syndrome (SRS) is a genetically and clinically heterogeneous disease. Although no protein coding gene defects have been reported in SRS patients, approximately 50% of SRS patients carry epimutations (hypomethylation) at the IGF2/H19 imprinting control region 1 (ICR1). Prop...

Descripción completa

Detalles Bibliográficos
Autores principales: Bernier-Latmani, Jeremiah, Baumer, Alessandra, Shaw, Phillip
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721151/
https://www.ncbi.nlm.nih.gov/pubmed/19675668
http://dx.doi.org/10.1371/journal.pone.0006631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721151/
https://www.ncbi.nlm.nih.gov/pubmed/19675668
http://dx.doi.org/10.1371/journal.pone.0006631

Ejemplares similares