1.
Nat Genet
; 28(2): 125-6, 2001 Jun.
Article
in English
| MEDLINE
| ID: mdl-11381256
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.
Subject(s)
Adaptor Proteins, Signal Transducing , Carrier Proteins/genetics , Cherubism/genetics , Mutation , Carrier Proteins/metabolism , Cherubism/pathology , Genetic Linkage , Haplotypes/genetics , Heterozygote , Humans , Pedigree , Proto-Oncogene Proteins c-abl/metabolism , Stromal Cells/metabolism , Stromal Cells/pathology
2.
Oral Surg Oral Med Oral Pathol
; 71(3): 267-74, 1991 Mar.
Article
in English
| MEDLINE
| ID: mdl-2011347
ABSTRACT
Psoriatic arthritis is currently defined as psoriasis associated with chronic, erosive inflammatory arthritis, which is seronegative for rheumatoid factor. A review of the etiology, pathogenesis, diagnosis, and treatment is accompanied by two unusual case reports of psoriatic arthritis affecting the temporomandibular joints with ankylosis.
