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Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

Authors :
Manouvrier-Hanu, S.
Puech, B.
Piette, F.
Boute-Benejean, O.
Desbonnet, A.
Duquesnoy, B.
Farriaux, J.P.
Source :
American Journal of Medical Genetics. Part A; 19 March 1998, Vol. 76 Issue: 3 p217-221, 5p
Publication Year :
1998

Abstract

Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis. Am. J. Med. Genet. 76:217–221, 1998. © 1998 Wiley-Liss, Inc.

Details

Language :
English
ISSN :
15524825 and 15524833
Volume :
76
Issue :
3
Database :
Supplemental Index
Journal :
American Journal of Medical Genetics. Part A
Publication Type :
Periodical
Accession number :
ejs1832617
Full Text :
https://doi.org/10.1002/(SICI)1096-8628(19980319)76:3<217::AID-AJMG4>3.0.CO;2-N