- Original Article
- Lowe syndrome: a single center's experience in Korea
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Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
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Clin Exp Pediatr. 2014;57(3):140-148. Published online March 31, 2014
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Purpose Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. MethodsThe clinical findings and results of genetic studies were... |
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