Ontology highlight
ABSTRACT:
SUBMITTER: Tromp G
PROVIDER: S-EPMC1914842 | biostudies-literature | 1996 Nov
REPOSITORIES: biostudies-literature
Tromp G G Kuivaniemi H H Raphael S S Ala-Kokko L L Christiano A A Considine E E Dhulipala R R Hyland J J Jokinen A A Kivirikko S S Korn R R Madhatheri S S McCarron S S Pulkkinen L L Punnett H H Shimoya K K Spotila L L Tate A A Williams C J CJ
American journal of human genetics 19961101 5
Blau syndrome (MIM 186580), first described in a large, three-generation kindred, is an autosomal, dominantly inherited disease characterized by multiorgan, tissue-specific inflammation. Its clinical phenotype includes granulomatous arthritis, skin rash, and uveitis and probably represents a subtype of a group of clinical entities referred to as "familial granulomatosis." It is the sole human model with recognizably Mendelian inheritance for a variety of multisystem inflammatory diseases affecti ...[more]