Familial dysautonomia: a 47-year perspective. How technology confirms clinical acumen.
A historical perspective of familial dysautonomia is presented, highlighting the early contributions of Dr. Joseph Dancis. As further investigations proceeded, his original observations have withstood the test of time and may contribute to determining the molecular abnormality in this rare genetic disorder. Dr. Dancis's work in this area serves as a model of how observations based on clinical acumen and critical thinking can be verified by future technological advances.
Axelrod
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Department of Pediatrics, New York University Medical Center, USA.
D000328:Adult; D002648:Child; D004402:Dysautonomia, Familial / Q000235:genetics / Q000266:history*; D005544:Forecasting; D005820:Genetic Testing / Q000639:trends; D049673:History, 20th Century; D006801:Humans; D007223:Infant