期刊
JOURNAL OF PEDIATRIC GENETICS
卷 5, 期 2, 页码 98-104出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0036-1579766
关键词
neurofibromatosis; NF1; von Recklinghausen disease; NF2; schwannomatosis
类别
The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article.
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