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Article

Okihiro syndrome is caused by SALL4 mutations.

Human molecular genetics - 1 Nov 2002

Kohlhase Jürgen, Heinrich Marielle, Schubert Lucia, Liebers Manuela, Kispert Andreas, Laccone Franco, Turnpenny Peter, Winter Robin M, Reardon William

Abstract excerpt

Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mutation of the TBX5...

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Source

Identifiers

PMID: 12393809
DOI: 10.1093/hmg/11.23.2979

Genes

SALL4
SALL1
TBX5

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

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Okihiro syndrome is caused by SALL4 mutations.PMID 12393809Read ↗

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

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

A de novo mutation of SALL4 gene in a Chinese family with Okihiro syndromeSemantic proximity Read ↗

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.Semantic proximity Read ↗

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.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 ↗

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

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

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.Semantic proximity Read ↗

Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome.Semantic proximity Read ↗

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