Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect.
K
K
Brockmann
R
R
Böhm
J
J
Bürger
D017204:Angelman Syndrome / Q000235:genetics* / Q000473:pathology; D001324:Autoantigens; D002675:Child, Preschool; D004247:DNA / Q000235:genetics / Q000378:metabolism; D019175:DNA Methylation; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D010641:Phenotype; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics; D055517:snRNP Core Proteins
D001324:Autoantigens; D017411:Ribonucleoproteins, Small Nuclear; D055517:snRNP Core Proteins; D004247:DNA