Article

Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndrome

2023-06-27

Abstract excerpt

<title>Abstract</title><p><bold>Background:</bold>Lowe syndrome is an uncommon genetic disorder that follows an X-linked recessive inheritance pattern. It is defined by the occurrence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study examined the clinical and genetic features of eight children diagnosed with Lowe syndrome in Southern China.<bold>Methods:</bold>W...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 498ff6a0-2319-5b9c-9147-0ebb9fab9942
DOI: 10.21203/rs.3.rs-3100497/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndromeDOI 10.21203/rs.3.rs-3100497/v1Read

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Semantic proximity Read

Novel mutation of OCRL1 in Lowe syndrome.Semantic proximity Read

Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a familySemantic proximity Read

Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.Semantic proximity Read

Novel OCRL mutations in Chinese children with Lowe syndrome.Semantic proximity Read

[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome].Semantic proximity Read

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read

A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.Semantic proximity Read

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Semantic proximity Read

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.Semantic proximity Read

Genomic sequencing of Lowe syndrome trios reveal a mechanism for the heterogeneity of neurodevelopmental phenotypesSemantic proximity Read