Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.

The Journal of dermatology - 1 Mar 2018

Murakami Yukako, Wataya-Kaneda Mari, Iwatani Yoshiko, Kubota Takuo, Nakano Hajime, Katayama Ichiro

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to DNA Mutational Analysis
Share to Genetic Testing
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oculocerebrorenal Syndrome

Share to Phosphoric Monoester Hydrolases

Share to Skin Diseases

Source

Identifiers

PMID: 28516463
DOI: 10.1111/1346-8138.13881

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.PMID 28516463Read ↗

Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.Semantic proximity Read ↗

[A case report of genetic analysis in the OCRL1 gene in 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 ↗

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.Semantic proximity Read ↗

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Semantic proximity Read ↗

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

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

Genotype & Phenotype in Lowe Syndrome: Specific <i>OCRL1</i> patient mutations differentially impact cellular phenotypesSemantic proximity Read ↗

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.Semantic proximity Read ↗

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.