ArticleIntractable & rare diseases research2020
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.
Article in Intractable & rare diseases research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Molecular biology reports · 2026Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The oculocerebrorenal syndrome of Lowe is a rare X-linked disease characterized by congenital cataracts, proximal renal tubulopathy, muscular hypotonia and mental impairment. This disease is caused by mutations in the
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