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Arthropathy of Lowe's (Oculocerebrorenal) Syndrome

✍ Scribed by Balu H. Athreya; H. Ralph Schumacher; Harry D. Getz; Michael E. Norman; Spencer Borden; Iv; Camillus L. Witzleben

Publisher: John Wiley and Sons
Year: 1983
Tongue: English
Weight: 839 KB
Volume: 26
Category: Article
ISSN: 0004-3591
DOI: 10.1002/art.1780260605

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✦ Synopsis

Open surgical biopsy specimens of the knee joint in 2 patients, and of the wrist joint in 1, were obtained. The synovial tissue was placed in 4% formaldehyde (for routine stains) and in YZ strength Karnovsky's paraformaldehydeglutaraldehyde at pH 7.4, or in 3% glutaraldehyde for

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The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified