Duane radial ray syndrome

*Gene map locus 20q13.13-q13.2

Acrorenoocular syndrome

DR syndrome

DRRS

Duane anomaly with radial ray abnormalities and deafness

Okihiro syndrome

[Clinical features: upper limb anomalies; ocular anomalies; renal anomalies in some cases]

[Inheritance: autosomal dominant]


Okihiro syndrome is caused by SALL4 mutations	Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome	Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome
Human Molecular Genetics	Investigative Ophthalmology & Visual Science	Investigative Ophthalmology & Visual Science


Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome	Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome	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
Investigative Ophthalmology & Visual Science	Investigative Ophthalmology & Visual Science	Journal of Medical Genetics


Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum	Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families	Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
Journal of Medical Genetics	Journal of Medical Genetics	Journal of Medical Genetics


Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families	Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
Journal of Medical Genetics	Journal of Medical Genetics

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Edited by Aldo Campana, August 21, 2012