Associated Papers
A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.
Ma X et al.
Molecular Medicine Reports, 2022
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU et al.
European Journal of Medical Genetics, 2016
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome.
Demer JL et al.
Investigative Ophthalmology & Visual Science, 2007
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J et al.
Human Mutation, 2005
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.
Borozdin W et al.
Journal of Medical Genetics, 2004
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.
Kohlhase J et al.
Journal of Medical Genetics, 2003
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
Al-Baradie R et al.
American Journal of Human Genetics, 2002
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