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Saudi J Kidney Dis Transpl. 2020 Jan-Feb;31(1):285-288. doi: 10.4103/1319-2442.279955.

Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.

Author information

1
Department of Nephrology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
2
Department of Surgery, Fortis Hospital, Ludhiana, Punjab, India.

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.

PMID:
32129227
DOI:
10.4103/1319-2442.279955
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