Oculocerebrorenal syndrome of Lowe: Three mutations in the OCRL1 gene derived from three patients with different phenotypes

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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