Mutations in the Gene Encoding C-Abl-binding Protein SH3BP2 Cause Cherubism

Overview

Journal Nat Genet

Specialty Genetics

Date 2001 May 31

PMID 11381256

Citations 127

Authors

Y Ueki

V Tiziani

C SantAnna

N Fukai

C Maulik

J Garfinkle

C Ninomiya

C doAmaral

H Peters

M Habal

J B Doss

S Kreiborg

B R Olsen

E Reichenberger

Affiliations

Soon will be listed here.

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.

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