Once you determine that a male or female patient’s symptoms and/or physical manifestations are consistent with a diagnosis of Fabry Disease, what disciplined, systematic approach to you use to genetic, mutational testing?
Once you determine that a male or female patient’s symptoms and/or physical manifestations are consistent with a diagnosis of Fabry Disease, what disciplined, systematic approach to you use to genetic, mutational testing?
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Presenter
Associate Professor of Clinical Pediatrics
Cincinnati Children's Hospital Medical Center
Co-Director, 22Q-VCFS Center
University of Cincinnati College of Medicine
Cincinnati, OH