Multiple Epidermal Cysts in Lowe Syndrome

Lowe syndrome is a rare genetic disease that appears to cause various clinical symptoms involving the eye, nervous system, and kidney. While a mutation of the OCRL1 gene is known to be responsible for this syndrome, the exact pathophysiology remains unclear. Various multi-organ symptoms are characte...

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Bibliografiske detaljer
Main Authors: Won, Jong Hoon, Lee, Min Jung, Park, Joon Soo, Chung, Hyun, Kim, Jin Kyung, Shim, Jeong Su
Format: Artigo
Sprog:Inglês
Udgivet: Korean Dermatological Association; The Korean Society for Investigative Dermatology 2010
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2991724/
https://ncbi.nlm.nih.gov/pubmed/21165217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5021/ad.2010.22.4.444
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