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...

Full description

Bibliographic Details
Main Authors: Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Format: Article
Language:English
Published: Korean Pediatric Society 2014-03-01
Series:Korean Journal of Pediatrics
Subjects:
Online Access:http://kjp.or.kr/upload/pdf/kjped-57-140.pdf