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Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion Syndrome.

Mike W ZhangStephanie T BustrosTyler E GastonMaria DescartesShruti P Agnihotri
Published in: The Neurohospitalist (2024)
Our case illustrates the challenges of diagnosing genetic disorders in adults especially when the initial diagnosis is dependent on a number of factors, including the patient's age, the severity of the phenotypic features, and the awareness of the physician.
Keyphrases
  • case report
  • primary care
  • emergency department
  • genome wide
  • copy number