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
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.
Elmakky A et al.
Current Genomics, 2015
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.
Yang MM et al.
Molecular Vision, 2013
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.
Furniss D et al.
Journal of Medical Genetics, 2009
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
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
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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