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Signs and Symptoms of Genetic Conditions

A Handbook

Edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme

  • Clinical manual that guides users from nonspecific presenting symptom to differential diagnoses
  • Expert, symptom-led chapters from the world's most qualified physicians in each area
  • Succinct presentation of protocols with easy-to-follow flowcharts
  • Recommended lab and imaging studies accompanying each sign/symptom
  • Follow-up and supervision strategies for each differential diagnosis
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