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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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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

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