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[Clinical and molecular genetic findings in isolated sporadic Duane syndrome].

Klinische Monatsblatter fur Augenheilkunde - 1 Oct 2004

Wabbels B K, Kohlhase J, Lorenz B

Abstract excerpt

BACKGROUND: Duane retraction syndrome (DURS) accounts for 1 - 4 % of all cases of strabismus. Approximately 90 % of the cases are sporadic with a preponderance for females and the left eye. Many associated ocular and systemic findings have been described. Recently, mutations of SALL4 have been found in patients with autosomal-dominantly inherited Okihiro syndrome (DURS associated with forearm malformations). The...

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Identifiers

PMID: 15499520
DOI: 10.1055/s-2004-813662

Genes

SALL4

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical and molecular genetic findings in isolated sporadic Duane syndrome].PMID 15499520Read ↗

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

Clinical diversity of hereditary Duane's retraction syndrome.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 ↗

Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.Semantic proximity Read ↗

Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.Semantic proximity Read ↗

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: A case report and expanding the phenotypic spectrumSemantic proximity Read ↗

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.Semantic proximity Read ↗

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.Semantic proximity Read ↗

A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.Semantic proximity Read ↗

Okihiro syndrome is caused by SALL4 mutations.Semantic proximity Read ↗

Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome.Semantic proximity Read ↗

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

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