Article
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.
The American journal of case reports - 24 Mar 2023
Goodman Corban P, Park Hyunsoo, Mladenov Georgi D, Raymond Steven L, Sundin Andrew, Radulescu Andrei, Khan Faraz A
Abstract excerpt
BACKGROUND Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic condition caused by an X-linked mutation of the OCRL1 gene, with an estimated prevalence in the general population of approximately 1 in 500 000. It is a multisystem disorder most commonly affecting the eyes, central nervous system, and kidneys. These commonly manifest as congenital cataracts, intellectual disability, and...
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