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

Genetic causes of optic nerve hypoplasia.

Journal of medical genetics - 1 Jul 2017

Chen Chun-An, Yin Jiani, Lewis Richard Alan, Schaaf Christian P

Abstract excerpt

Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations. An increasing number of genes has...

Read the complete abstract on PubMed

Topics

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

Share to Chromatin Assembly and Disassembly
Share to Genetic Predisposition to Disease
Share to Models, Biological

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

Share to Ocular Disorders and Treatments

Share to Optic Nerve

Share to Retinal Development and Disorders

Share to Retinopathy of Prematurity Studies

Share to Transcription Factors

Source

Identifiers

PMID: 28501829
DOI: 10.1136/jmedgenet-2017-104626

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic causes of optic nerve hypoplasia.PMID 28501829Read ↗

Congenital abnormalities of the optic nerve: from gene mutation to clinical expression.Semantic proximity Read ↗

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.Semantic proximity Read ↗

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.Semantic proximity Read ↗

Prenatal determinants of optic nerve hypoplasia: Review of suggested correlates and future focusSemantic proximity Read ↗

Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Semantic proximity Read ↗

Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture.Semantic proximity Read ↗

The Molecular Basis of Human Anophthalmia and MicrophthalmiaSemantic proximity Read ↗

Eye development genes and known syndromes.Semantic proximity Read ↗

The genetics of anophthalmia and microphthalmia.Semantic proximity Read ↗

A review of primary hereditary optic neuropathies.Semantic proximity Read ↗

Conserved genetic pathways associated with microphthalmia, anophthalmia, and colobomaSemantic proximity Read ↗

Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.Semantic proximity Read ↗

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