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
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
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
Ullah E et al.
Ophthalmic Genetics, 0
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