New p57KIP2 mutations in Beckwith-Wiedemann syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-09

AUTHORS

I. Hatada, Akira Nabetani, Hiroko Morisaki, Zhenghan Xin, Sachiko Ohishi, Hidefumi Tonoki, Norio Niikawa, Masahiro Inoue, Yosuke Komoto, Akira Okada, Elisabeth Steichen, Hirofumi Ohashi, Yoshimitsu Fukushima, Masahiro Nakayama, Tsunehiro Mukai

ABSTRACT

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. More... »

PAGES

681-683

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390050573

DOI

http://dx.doi.org/10.1007/s004390050573

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1023574549

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9341892


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