Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

Yasuyoshi Ueki, Valdenize Tiziani, Carla Santanna, Naomi Fukai, Chris Maulik, Judah Garfinkle, Chisho Ninomiya, Cassio Doamaral, Hartmut Peters, Mutaz Habal, Laila Rhee-Morris, Jeffrey B. Doss, Sven Kreiborg, Bjorn R. Olsen, Ernst Reichenberger

Research output: Contribution to journalArticle

244 Scopus citations

Abstract

Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.

Original languageEnglish (US)
Pages (from-to)125-126
Number of pages2
JournalNature genetics
Volume28
Issue number2
DOIs
StatePublished - Jun 26 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., Doamaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., & Reichenberger, E. (2001). Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nature genetics, 28(2), 125-126. https://doi.org/10.1038/88832