Searchable abstracts of presentations at key conferences in endocrinology

ea0063p819 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

A novel pathogenic mutation in neurofibromatosis type 1

Fischler Rebecca , Vandernoot Isabelle , Brouckere Veronique de , Lucidi Valerio , Corvilain Bernard , Driessens Natacha

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent genetic dominant syndrom in men with a prevalence of 1 in 2600 to 3000 individuals worldwide. NIH NF1 diagnostic criteria are driven by the most frequent manifestations of the disease (‘café au lait’ macules (CAL), neurofibromas, freckling, optic glioma, Lisch nodules and bone lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine ...