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Belgian Endocrine Society 2019

BES 2019

A novel pathogenic mutation in neurofibromatosis type 1

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ea0064031 | A novel pathogenic mutation in neurofibromatosis type 1 | BES2019

A novel pathogenic mutation in neurofibromatosis type 1

Rebecca Fischler , Isabelle Vandernoot , Valerio Lucidi , Bernard Corvilain , Natacha Driessens

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 osseus lesions). There are many clinical manifestations of NF1 (neurological, cardiovascular, gastrointestinal, endocrine and orthop...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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