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Original Article

Lowe syndrome: a single center's experience in Korea

Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

Clin Exp Pediatr. 2014;57(3):140-148. Published online March 31, 2014

Crossref 13

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.

Methods

The clinical findings and results of genetic studies were...

DOI: https://doi.org/10.3345/kjp.2014.57.3.140

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