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Journal of Undergraduate Research

Keywords

Anderson-Tawil Syndrome, ATS, potassium channels, drosophila development

College

Physical and Mathematical Sciences

Department

Chemistry and Biochemistry

Abstract

Anderson-Tawil Syndrome (ATS) is characterized by morphological defects including clinodactyly (abnormal curvature of digits), syndactyly (fused digits), micrognathia (small jaw), cleft palate, and hypertelorism (wide-set eyes) as well as periodic paralysis and heart arrhythmia. Mutations in inwardly rectifying potassium (Irk) channels are found in patients with ATS. Expression of mutant Irk channels causes similar physiological and morphological defects in mice.

Included in

Chemistry Commons

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