Gene: [16^/BLAU] Blau syndrome (granulomatous synovitis with uveitis and cranial neuropathies); Jabs syndrome (arthrocutaneouveal granulomatosus; ACUG); [JABS ACUG ]
REF |
PAT,LOC,LIN "Tromp G &: AJHG, 59, 1097-1107, 1996 PAT,LOC,LIN "Tromp G &: AJHG, 55, A205, 1994 |
KEY |
bone, neu |
CLA |
unknown, basic |
LOC |
16 p12-q21 |
MIM |
MIM: 186580 |
SYN |
JABS ACUG |