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Keywords: Okihiro syndrome
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Journal Articles
Journal: Development
Development (2006) 133 (15): 3005–3013.
Published: 1 August 2006
... the autosomal dominant disorder known as Okihiro syndrome. In this study, we show that a targeted null mutation in the mouse Sall4 gene leads to lethality during peri-implantation. Growth of the inner cell mass from the knockout blastocysts was reduced, and Sall4 -null embryonic stem (ES) cells proliferated...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2006) 133 (6): 1165–1173.
Published: 15 March 2006
...Steven A. Harvey; Malcolm P. O. Logan Okihiro syndrome (OS) is defined by forelimb defects associated with the eye disorder Duane anomaly and results from mutations in the gene SALL4. Forelimb defects in individuals with OS range from subtle thumb abnormalities to truncated limbs. Mutations...