Lowe syndrome: a single center's experience in Korea
PurposeLowe 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...
Main Authors: | 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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Format: | Article |
Language: | English |
Published: |
Korean Pediatric Society
2014-03-01
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Series: | Korean Journal of Pediatrics |
Subjects: | |
Online Access: | http://kjp.or.kr/upload/pdf/kjped-57-140.pdf |
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