A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome

European Journal of Medical Genetics

Volumn 54, Issue 4, 2011, Pages

  De Crescenzo, Agostina ^a   Coppola, Filomena ^b   Falco, Pietro ^b   Bernardo, Italo ^b   Ausanio, Gaetano ^b   Cerrato, Flavia ^a   Falco, Luigi ^b   Riccio, Andrea ^a,c  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b Azienda Ospedaliera di Caserta   (Italy)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

Epigenetics; Genomic imprinting; Growth disorders

Indexed keywords

ZINC FINGER PROTEIN;

ALLELE; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 11P; CONTROLLED STUDY; DNA METHYLATION; DNA SEQUENCE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENOME IMPRINTING; HETEROZYGOTE; HUMAN; MALE; PHENOTYPE; REGULATOR GENE;

ADULT; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; FEMALE; GENE ORDER; GENOMIC IMPRINTING; GENOTYPE; HUMANS; INFANT, NEWBORN; INSULIN-LIKE GROWTH FACTOR II; MALE; MUTATION; PEDIGREE; PHENOTYPE; RNA, UNTRANSLATED; UNIPARENTAL DISOMY;

EID: 79960093417     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.04.009     Document Type: Article

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