Associated Papers
A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.
Ma X et al.
Molecular Medicine Reports, 2022
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU et al.
European Journal of Medical Genetics, 2016
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
Okihiro syndrome is caused by SALL4 mutations.
Kohlhase J et al.
Human Molecular Genetics, 2002
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