BLAU-SYNDROME OF GRANULOMATOUS ARTHRITIS, IRITIS, AND SKIN RASH - A NEW FAMILY AND REVIEW OF THE LITERATURE

Authors
MANOUVRIERHANU S PUECH B PIETTE F BOUTEBENEJEAN O DESBONNET A DUQUESNOY B FARRIAUX JP
Citation
S. Manouvrierhanu et al., BLAU-SYNDROME OF GRANULOMATOUS ARTHRITIS, IRITIS, AND SKIN RASH - A NEW FAMILY AND REVIEW OF THE LITERATURE, American journal of medical genetics, 76(3), 1998, pp. 217-221
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
76
Issue
3
Year of publication
1998
Pages
217 - 221
Database
ISI
SICI code
0148-7299(1998)76:3<217:BOGAIA>2.0.ZU;2-S
Abstract
Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, an d skin rash, and is an autosomal-dominant trait with variable expressi vity, So far it was described in 5 families, We report on a sixth fami ly with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis, (C) 1998 Wiley-Liss, Inc.