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...

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Detalles Bibliográficos
Autores principales: Şimşek, Enver, Şimşek, Tülay, Dallar, Yıldız, Can, Önder, Willems, Patrick J
Formato: Texto
Lenguaje:English
Publicado: Galenos Publishing 2011
Materias:
Case Reports
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

Internet

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

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