Article
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.
Journal of medical genetics - 1 Dec 2022
Sena Cecilia, Iannello Grazia, Skowronski Alicja A, Dannheim Katelyn, Cheung Leonard, Agrawal Pankaj B, Hirschhorn Joel N, Zeitler Phillip, LeDuc Charles A, Stratigopoulos George, Thaker Vidhu V
Abstract excerpt
BACKGROUND: Lowe syndrome (LS) is an X linked disease caused by pathogenic variants in the OCRL gene that impacts approximately 1 in 500 000 children. Classic features include congenital cataract, cognitive/behavioural impairment and renal tubulopathy. METHODS: This study is a retrospective review of clinical features reported by family based survey conducted by Lowe Syndrome Association. Frequency of non-ocular...
Topics
- Child
- Male
- Animals
- Mice
- Female
- Humans
- Infant
- Child, Preschool
- Adolescent
- Young Adult
- Adult
- Middle Aged
- Oculocerebrorenal Syndrome
- Phosphoric Monoester Hydrolases