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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...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
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BioMed Central
2012
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3514203/ https://ncbi.nlm.nih.gov/pubmed/23116464 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-99 |
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