No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

European Journal of Human Genetics

Volumn 20, Issue 1, 2012, Pages 119-121

  Boonen, Susanne E ^a,b   Hahnemann, Johanne M D ^a   MacKay, Deborah ^c,d   Tommerup, Niels ^b   Brøndum Nielsen, Karen ^a,e   Tümer, Zeynep ^a,e   Grønskov, Karen ^a,e  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^d SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Beckwith Wiedemann syndrome; germline alterations; hypomethylation; imprinting; maternal effect genes; ZFP57

Indexed keywords

UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 57;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INHERITANCE; MALE; MOTHER; PRIORITY JOURNAL;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC TESTING; HUMANS; INHERITANCE PATTERNS; MALE; MUTATION; TRANSCRIPTION FACTORS;

EID: 83255185153     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.140     Document Type: Article

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