Beckwith–Wiedemann syndrome

'Beckwith–Wiedemann syndrome' can also refer to...

Beckwith–Wiedemann syndrome

Omphalocele and Beckwith-Wiedemann Syndrome

IGF2, H19, CDKNIC, KCNQ1OT1, and the Beckwith-Wiedemann Syndrome

Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Imprinting of IGF2 and H19: Lack of Reciprocity in Sporadic Beckwith-Wiedemann Syndrome

Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

An association between variants in the IGF2 gene and Beckwith–Wiedemann syndrome: interaction between genotype and epigenotype

Imprinting Mutation in the Beckwith-Wiedemann Syndrome Leads to Biallelic IGF2 expression through an H19-Independent Pathway

Syntenic Organization of the Mouse Distal Chromosome 7 Imprinting Cluster and the Beckwith-Wiedemann Syndrome Region in Chromosome 11p15.5

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

Sequence conservation and variability of imprinting in the Beckwith–Wiedemann syndrome gene cluster in human and mouse

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith–Wiedemann syndrome

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci


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A rare developmental disorder (exomphalos–macroglossia–gigantism syndrome, EMG syndrome) with a complex pattern of inheritance caused by mutation or deletion of imprinted genes within the chromosome 11p15.5 region. Specific genes involved include p57 (KIP2), H19, and LIT1 (long QT intronic transcript 1). There are various growth abnormalities, advanced ageing, and predisposition to childhood tumours. Silver–Russell syndrome is caused by hypomethylation defects at 11p15.

Subjects: Medicine and Health.

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