Angelman syndrome: Mutations influence features in early childhood

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 81-90

  Tan, Wen Hann ^a,b   Bacino, Carlos A ^a,c   Skinner, Steven A ^a,d   Anselm, Irina ^a,b   Barbieri Welge, Rene ^a,e   Bauer Carlin, Astrid ^a,d   Beaudet, Arthur L ^a,c   Bichell, Terry Jo ^a,f   Gentile, Jennifer K ^a,b   Glaze, Daniel G ^a,c   Horowitz, Lucia T ^a,d   Kothare, Sanjeev V ^a,b   Lee, Hye Seung ^a,g   Nespeca, Mark P ^a,e   Peters, Sarika U ^a,c,f   Sahoo, Trilochan ^a,c,h   Sarco, Dean ^a,b,i   Waisbren, Susan E ^a,b   Bird, Lynne M ^a,e  

^a Prader Willi Syndromes Consortium   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d GREENWOOD GENETIC CENTER   (United States)

^e RADY CHILDREN'S HOSPITAL   (United States)

^f VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^g UNIVERSITY OF SOUTH FLORIDA   (United States)

^h Signature Genomic Laboratories LLC   (United States)

ⁱ KAISER PERMANENTE   (United States)

Author keywords

Angelman syndrome; Behavioral genetics; Child development; Genotype phenotype correlation; Growth

Indexed keywords

UBIQUITIN PROTEIN LIGASE E3; UBIQUITIN PROTEIN LIGASE E3A; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; ATTENTION DISTURBANCE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROENCEPHALOGRAPHY; FEMALE; GENE DELETION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; INFANT; MALE; MICROCEPHALY; MUTATIONAL ANALYSIS; OBESITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SLEEP DISORDER; UNDERWEIGHT; UNIPARENTAL DISOMY;

ANGELMAN SYNDROME; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; DATA COLLECTION; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT; LONGITUDINAL STUDIES; MUTATION; PHENOTYPE; STATISTICS, NONPARAMETRIC; UBIQUITIN-PROTEIN LIGASES;

EID: 78650675939     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33775     Document Type: Article

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