Associated Papers
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU et al.
European Journal of Medical Genetics, 2016
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
Paradisi I et al.
American Journal of Medical Genetics. Part A, 2007
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J et al.
Human Mutation, 2005
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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