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

Y Ueki, V Tiziani, C Santanna, N Fukai, C Maulik… - Nature …, 2001 - nature.com
Y Ueki, V Tiziani, C Santanna, N Fukai, C Maulik, J Garfinkle, C Ninomiya, C doAmaral…
Nature genetics, 2001nature.com
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by
excessive bone degradation of the upper and lower jaws 1 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.
Abstract
Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws 1 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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