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A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, renal tubular dysfunction, cognitive problems and maladaptive behavior. The syndrome is caused by pathogenic DNA variations in the X-linked OCRL1 gene. A 24-month-old boy was referred to our...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Galenos Publishing
2011
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065313/ https://www.ncbi.nlm.nih.gov/pubmed/21448331 http://dx.doi.org/10.4274/jcrpe.v3i1.06 |