Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect

American Journal of Medical Genetics, Part A

Volumn 167, Issue 7, 2015, Pages 1565-1569

  Fairbrother, Laura C ^a   Cytrynbaum, Cheryl ^b,c   Boutis, Paula ^d   Buiting, Karin ^e   Weksberg, Rosanna ^b,c   Williams, Charles A ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d Universitätsklinikum Essen ^*  (Canada)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Angelman syndrome; DNA methylation; Imprinting; Imprinting defect; Mosaic; MS MLPA

Indexed keywords

ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CHILD; CHILD NUTRITION; COGNITION ASSESSMENT; DNA METHYLATION; ELECTROENCEPHALOGRAM; FEEDING DIFFICULTY; FEMALE; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HUMAN; MULLEN SCALES OF EARLY LEARNING; PEABODY PICTURE VOCABULARY TEST; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RATING SCALE; SOCIAL INTERACTION; SPEECH DELAY; STANFORD BINET INTELLIGENCE SCALE TEST; VAGINAL DELIVERY; VINELAND ADAPTIVE BEHAVIORAL SCALE; CHROMOSOME 15; ELECTROENCEPHALOGRAPHY; GENETICS; GENOME IMPRINTING; METABOLISM; PATHOLOGY;

UBE3A PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ANGELMAN SYNDROME; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; ELECTROENCEPHALOGRAPHY; FEMALE; GENOMIC IMPRINTING; HUMANS; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES;

EID: 84931574873     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37058     Document Type: Article

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