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P29 Genotype-phenotype correlation and longitudinal study of Andersen-Tawil Syndrome in the UK

✍ Scribed by D.L. Raja Rayan; S. Rajakulendran; G. Barreto; S.V. Tan; L. Dewar; R.C. Griggs; M.G. Hanna


Book ID
117670347
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
37 KB
Volume
21
Category
Article
ISSN
0960-8966

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Genotype-phenotype correlations of KCNJ2
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Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been