Article
Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome.
Human genetics - 1 Sept 1997
Hoag H M, Taylor S A, Duncan A M, Khalifa M M
Abstract excerpt
Aicardi syndrome is a rare disorder characterized by absent corpus callosum, infantile spasms, and choriorentinal lacunae. It is sporadic in nature and affects only females, resulting in severe mental and physical handicap. It has been suggested that the disease is caused by a dominant X-linked m...
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