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

The genetics of nonsyndromic bilateral Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2016

Abu-Amero Khaled K, Khan Arif O, Oystreck Darren T, Kondkar Altaf A, Bosley Thomas M

Abstract excerpt

PURPOSE: To assess the importance of monogenic mutations and chromosomal copy number variants (CNVs) in the occurrence of nonsyndromic bilateral Duane retraction syndrome (bilateral nsDRS). METHODS: The medical records of 12 patients with bilateral nsDRS were reviewed. Genes associated with DRS and associated congenital cranial dysinnervation disorders (SALL4, CHN1, HOXA1, TUBB3, and KIF21A) were sequenced in the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosome Disorders

Share to Chromosome Duplication

Share to Comparative Genomic Hybridization

Share to DNA Copy Number Variations

Share to Young Adult

Source

Identifiers

PMID: 27658539
DOI: 10.1016/j.jaapos.2016.06.008

Genes

CHN1
HOXA1
SALL4
TUBB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

The genetics of nonsyndromic bilateral Duane retraction syndrome.PMID 27658539Read ↗

Clinical diversity of hereditary Duane's retraction syndrome.Semantic proximity Read ↗

Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome.Semantic proximity Read ↗

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.Semantic proximity Read ↗

Localization of a gene for Duane retraction syndrome to chromosome 2q31.Semantic proximity Read ↗

Congenital cranial dysinnervation disordersSemantic proximity Read ↗

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.Semantic proximity Read ↗

[Clinical and molecular genetic findings in isolated sporadic Duane syndrome].Semantic proximity Read ↗

Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.Semantic proximity Read ↗

CCDD Phenotype Associated with a Small Chromosome 2 Deletion.Semantic proximity Read ↗

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.Semantic proximity Read ↗

Duane syndrome associated with Rubinstein-Taybi syndrome type II.Semantic proximity Read ↗

Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.Semantic proximity Read ↗

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