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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Detalhes bibliográficos
Principais autores: Kim, Hyun-Kyung, Kim, Ja Hye, Kim, Yoo-Mi, Kim, Gu-Hwan, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2014
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4000760/
https://ncbi.nlm.nih.gov/pubmed/24778696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2014.57.3.140
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