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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.
OBJECTIVE The differences between seronegative and seropositive rheumatoid arthritis (RA) have not been widely reported. We performed electronic health record (EHR)-based phenome-wide association studies (PheWAS) to identify disease associations in seropositive and seronegative RA. METHODS A validated algorithm identified RA subjects from the… (More)
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.