In May, revised diagnostic criteria for NF1 were published in Genetics in Medicine, the journal of the American College of Medical Genetics and Genomics (Revised diagnostic criteria for ...
A diagnosis of NF1 is made through an extensive physical examination and, in some cases, biopsies, imaging studies, or additional medical tests to confirm the presence of any of the following ...
DeBella K, Szudek J, Friedman JM: Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000; 105: 608–14 CrossRef MEDLINE 5. Legius E ...