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Article

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

Human mutation - 1 Sept 2005

Kohlhase Jürgen, Chitayat David, Kotzot Dieter, Ceylaner Serdar, Froster Ursula G, Fuchs Sigrun, Montgomery Tara, Rösler Bernd

Abstract excerpt

Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in the SALL4 gene, a human gene related to the developmental regulator spalt (sal) of Drosophila...

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Source

Identifiers

PMID: 16086360
DOI: 10.1002/humu.20215

Genes

SALL4

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.

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SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.PMID 16086360Read ↗

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 ↗

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

Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro 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 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 in a Chinese family with Duane Radial Ray Syndrome and expanding the phenotypic spectrumSemantic proximity Read ↗

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

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

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.Semantic proximity Read ↗

Structural analysis of SALL4 zinc-finger domain reveals a link between AT-rich DNA binding and Okihiro syndromeSemantic proximity Read ↗

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