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
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Desbuquois syndrome in three sisters with significantly different lengths of survival
โ Scribed by A.R. Lloyd; K.G. Ragosta; C.R. Bryke; J.J. Hoo
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 126 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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