Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood

European Journal of Medical Genetics

Volumn 57, Issue 6, 2014, Pages 293-297

  Alders, Mariëlle ^a   Maas, Saskia M ^a   Kadouch, Daniël J M ^a   Van der Lip, Karin ^a   Bliek, Jet ^a   Van der Horst, Chantal M A M ^a   Mannens, Marcel M A M ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Beckwith Wiedemann syndrome; Mosaicism; Uniparental disomy (UPD)

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; BLOOD; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EPIGENETICS; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LYMPHOCYTE; MALE; METHYLATION; MOLECULAR DIAGNOSIS; MOSAICISM; PRESCHOOL CHILD; TONGUE; UNIPARENTAL DISOMY; DNA METHYLATION; FEMALE; GENETICS; GENOME IMPRINTING; METABOLISM;

BECKWITH-WIEDEMANN SYNDROME; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; TONGUE; UNIPARENTAL DISOMY;

EID: 84901014917     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.03.011     Document Type: Article

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