Article
Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.
CEN case reports - 1 May 2020
Yamamoto Katsusuke, Hasegawa Yasuhiro, Ohata Yasuhisa, Satomura Kenichi, Mizoguchi Yoshimi, Shimotsuji Tsunesuke, Yamamoto Takehisa
Abstract excerpt
The oculocerebrorenal disorder of Lowe syndrome is an X-linked mutation in the gene oculocerebrorenal syndrome of Lowe 1 (OCRL), characterized by the triad of congenital cataracts, severe intellectual impairment, and renal tubular dysfunction. Manifestations of phenotype in female carriers and patients are extremely rare. We present a female case with congenital cataracts, severe intellectual impairment,...
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