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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...

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Identifiers

PMID: 35803701
DOI: 10.1136/jmedgenet-2022-108490
PMCID: PMC10186212

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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