Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome

• Hauptverfasser: Adam Jan Strzoda (Verfasst von), Aleksandra Sobieszczańska-Droździel (Verfasst von), Magdalena Kamińska (Verfasst von)
• Format: Buch
• Veröffentlicht: Termedia Publishing House, 2024-03-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

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...