Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

BACKGROUND: Loss of methylation (LOM) at imprinting control region (ICR) 1 or LOM at ICR 2 on chromosome 11p15 in leucocyte DNA is commonly used to diagnose the imprinting disorders Silver Russell syndrome (SRS) characterized by growth restriction or Beckwith Wiedemann syndrome (BWS) characterized b...

Descripción completa

Detalles Bibliográficos
Autores principales: Murphy, Rinki, Mackay, Deborah, Mitchell, Ed A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514203/
https://www.ncbi.nlm.nih.gov/pubmed/23116464
http://dx.doi.org/10.1186/1471-2350-13-99

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514203/
https://www.ncbi.nlm.nih.gov/pubmed/23116464
http://dx.doi.org/10.1186/1471-2350-13-99

Ejemplares similares