TY - JOUR AU - Murphy, Rinki AU - Mackay, Deborah AU - Mitchell, Ed A. PY - 2012 DA - 2012/11/01 TI - Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age JO - BMC Medical Genetics SP - 99 VL - 13 IS - 1 AB - 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 by overgrowth, respectively. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-13-99 DO - 10.1186/1471-2350-13-99 ID - Murphy2012 ER -