Associated Papers
Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract.
Rouxel F et al.
Heliyon, 2022
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.
Perdomo-Ramirez A et al.
Intractable & Rare Diseases Research, 2020
Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations.
Acosta-Tapia N et al.
Journal of Chemical Information and Modeling, 2020
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
32148946 (PubMed )
Supplement: 7054315.f1.pdf
Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Shalaby AK et al.
Molecular Vision, 2018
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