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gptkbp:instance_of
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gptkb:Genetics
|
|
gptkbp:associated_with
|
gptkb:Wilms_tumor
adrenal tumors
hemihyperplasia
macroglossia
neonatal hypoglycemia
omphalocele
|
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gptkbp:cause
|
overgrowth
|
|
gptkbp:condition
|
gptkb:Peters_anomaly
gptkb:Cohen_syndrome
gptkb:Silver-Russell_syndrome
gptkb:Sotos_syndrome
gptkb:Klinefelter_syndrome
|
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gptkbp:diagnosis
|
genetic testing
clinical evaluation
|
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gptkbp:first_described_by
|
gptkb:1964
|
|
gptkbp:future_prospects
|
variable prognosis
monitoring for tumors
potential for normal development
|
|
gptkbp:genetic_studies
|
chromosomal abnormalities
imprinting defects
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Beckwith-Wiedemann syndrome
|
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gptkbp:inherits_from
|
autosomal dominant
sporadic
|
|
gptkbp:named_after
|
gptkb:J._Bruce_Beckwith
Hans Wiedemann
|
|
gptkbp:prevalence
|
1 in 10,000 to 1 in 15,000 births
|
|
gptkbp:research_focus
|
epigenetics
cancer predisposition
genomic imprinting
|
|
gptkbp:risk_factor
|
gptkb:Assistive_technology
family history
advanced paternal age
|
|
gptkbp:symptoms
|
developmental delays
kidney abnormalities
facial asymmetry
ear abnormalities
large birth weight
|
|
gptkbp:treatment
|
surgical intervention
hormonal therapy
|
|
gptkbp:bfsParent
|
gptkb:adrenal_cortical_carcinoma
gptkb:adrenal_cancer
gptkb:Wilms_tumor
|
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gptkbp:bfsLayer
|
7
|