Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inosi...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2020-01-01
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| Series: | Saudi Journal of Kidney Diseases and Transplantation |
| Online Access: | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2020;volume=31;issue=1;spage=285;epage=288;aulast=Sethi |