Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome

• Glavni autori: Adam Jan Strzoda (Autor), Aleksandra Sobieszczańska-Droździel (Autor), Magdalena Kamińska (Autor)
• Format: Knjiga
• Izdano: Termedia Publishing House, 2024-03-01T00:00:00Z.
• Teme: article
• Online pristup: 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...