학술논문
Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene
Document Type
article
Author
Source
Saudi Journal of Kidney Diseases and Transplantation, Vol 31, Iss 1, Pp 285-288 (2020)
Subject
Language
English
ISSN
1319-2442
Abstract
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 inositol polyphosphate-5-phosphatase. We report a male child from North India, with LS with missense mutation in exon 14 of the OCRL gene.