Associated Papers
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Diderich KEM et al.
European Journal of Medical Genetics, 2023
Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome.
Watson JA et al.
Life Science Alliance, 2023
36635047 (PubMed )
Supplement: LSA-2022-01588_SdataF1.xlsx › Fig1a_ClinVar_uncertain_full
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.
Elmakky A et al.
Current Genomics, 2015
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
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