Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.

  title={Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.},
  author={Grace Yoon and Sneha Oberoi and Martin Tristani-Firouzi and Susan P. Etheridge and Lovingly C Quitania and Joel H. Kramer and Bruce LowekampNancy Miller and Y. H. Fu and Louis J. Pt{\'a}cek},
  journal={American journal of medical genetics. Part A},
  volume={140 4},
Andersen-Tawil syndrome (ATS) is an autosomal dominant multisystem disorder characterized by developmental, cardiac, and neuromuscular abnormalities. Approximately 70% of patients have mutations in KCNJ2, resulting in dysfunction of the inward-rectifying potassium channel Kir2.1. Variable expression complicates the diagnosis of ATS, which in many cases, is not made until years after the first recognized symptom. To better define the distinctive clinical features of ATS and facilitate earlier… CONTINUE READING


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