Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3010-3015

  Smith, Adam C ^a,b   Shuman, Cheryl ^a,b,c   Chitayat, David ^a,c   Steele, Leslie ^c   Ray, Peter N ^a,b,c   Bourgeois, Jaqueline ^d   Weksberg, Rosanna ^a,b,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

Epigenetics; Growth regulatory genes; Hemihyperplasia; Imprinted genes; Imprinting control centers; Wilms tumor

Indexed keywords

DIAZOXIDE; DNA; GLUCAGON;

BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 11; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONFERENCE PAPER; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; INFANT; MALE; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

ANEUPLOIDY; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; EPIGENESIS, GENETIC; FATAL OUTCOME; FEMALE; GENE EXPRESSION REGULATION; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; PHENOTYPE; RISK; SEQUENCE ANALYSIS, DNA; UNIPARENTAL DISOMY;

EID: 37249076439     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32030     Document Type: Conference Paper

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