Von Recklinghausen Neurofibromatosis

作者：Vincent Michael Riccardi · 发表于：New England Journal of Medicine · 年份：1981 · DOI：10.1056/nejm198112313052704 · 被引用次数：1356 · 研究领域：Neurofibromatosis and Schwannoma Cases、Neuroblastoma Research and Treatments、Sarcoma Diagnosis and Treatment

Neurofibromatosis is of great importance not only to the thousands of affected patients and their physicians but also to researchers concerned with genetics, melanin synthesis, neural-crest embryology, cell-cell interactions, cancer, and other disciplines. However, only recently has neurofibromatosis been the subject of widespread, systematic studies of its nature and pathogenesis.1 Neurofibromatosis is a relatively common autosomal dominant trait2 with a frequency of about 1 in 3000; it is inexorably progressive, but with markedly variable expressivity. Although its commonness and wide range of expression may provide impetus for study, they are also the bane of any scientific approach to the disease. . . .