Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1997 Oct;100(5-6):681-3.
doi: 10.1007/s004390050573.

New p57KIP2 Mutations in Beckwith-Wiedemann Syndrome


New p57KIP2 Mutations in Beckwith-Wiedemann Syndrome

I Hatada et al. Hum Genet. .


Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage analysis of autosomal dominant pedigrees. The increased maternal transmission pattern seen in the autosomal dominant-type pedigrees and the findings of paternal uniparental disomy reported for a subgroup of patients indicate that the gene for BWS is imprinted. Previously, we found p57KIP2, which is a Cdk-kinase inhibitor located at 11p15, is mutated in two BWS patients. Here, we screened for the mutation of the gene in 15 BWS patients.

Similar articles

See all similar articles

Cited by 16 articles

See all "Cited by" articles

Publication types


LinkOut - more resources