Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome
Lowe syndrome (oculocerebrorenal syndrome of Lowe - LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys. It is a consequence of mutation of the OCRL gene on chromosome Xq25-26, which encodes phosphatidylinosi...
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| Format: | Book |
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Termedia Publishing House,
2024-03-01T00:00:00Z.
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A1234.567 |
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