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Lowe syndrome: a single center's experience in Korea

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 clinica...

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Detalles Bibliográficos
Autores principales:	Kim, Hyun-Kyung, Kim, Ja Hye, Kim, Yoo-Mi, Kim, Gu-Hwan, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Pediatric Society 2014
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000760/ https://www.ncbi.nlm.nih.gov/pubmed/24778696 http://dx.doi.org/10.3345/kjp.2014.57.3.140

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