Discover Community Create You

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

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Survey of ophthalmology - 1 Jan 2000

Thuma Tobin B T, Procopio Rebecca A, Jimenez Hiram J, Gunton Kammi B, Pulido Jose S

Abstract excerpt

Hypomorphic variants decrease, but do not eliminate, gene function via a reduction in the amount of mRNA or protein product produced by a gene or by production of a gene product with reduced function. Many hypomorphic variants have been implicated in inherited retinal diseases (IRDs) and other genetic ocular conditions; however, there is heterogeneity in the use of the term "hypomorphic" in the scientific...

Read the complete abstract on PubMed

Topics

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

Share to Eye Diseases
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Retinal Diseases

Source

Identifiers

PMID: 38036193
DOI: 10.1016/j.survophthal.2023.11.006

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.PMID 38036193Read ↗

[Dysmorphic syndromes and regulatory genes].Semantic proximity Read ↗

Splicing mutations in inherited retinal diseases.Semantic proximity Read ↗

Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.Semantic proximity Read ↗

Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal DiseasesSemantic proximity Read ↗

The genetics of anophthalmia and microphthalmia.Semantic proximity Read ↗

Liddle syndrome phenotype in an octogenarian.Semantic proximity Read ↗

Advances in dysmorphology: from diagnosis to treatment.Semantic proximity Read ↗

Behavioural phenotypes in dysmorphic syndromes.Semantic proximity Read ↗

[The genetic background for the eye malformations anophthalmia and microphthalmia].Semantic proximity Read ↗

The state of the art of dysmorphology.Semantic proximity Read ↗

A novel gene mutation in an infant with cranial dysmorphology and orbital-maxillary hypoplasia.Semantic proximity Read ↗

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.Semantic proximity Read ↗

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