The characterization of Lowe Syndrome in a South African cohort
Oculocerebrorenal or Lowe Syndrome (OMIM #309000) is an X-linked recessive condition characterized by a triad of congenital cataracts, proximal renal tubular dysfunction, and variable central nervous system involvement. Nearly all affected boys will be hemizygous for a pathogenic variant in the OCRL...
| Main Author: | |
|---|---|
| Other Authors: | |
| Format: | Dissertation |
| Language: | English |
| Published: |
Faculty of Health Sciences
2021
|
| Subjects: | |
| Online Access: | http://hdl.handle.net/11427/33995 |