Lowe syndrome: a single center's experience in Korea

• Main Authors: Hyun-Kyung Kim (Author), Ja Hye Kim (Author), Yoo-Mi Kim (Author), Gu-Hwan Kim (Author), Beom Hee Lee (Author), Jin-Ho Choi (Author), Han-Wook Yoo (Author)
• 格式: 圖書
• 出版: Korean Pediatric Society, 2014-03-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

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...