期刊
MEDICAL CLINICS OF NORTH AMERICA
卷 103, 期 6, 页码 1035-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.mcna.2019.07.004
关键词
Neurofibromatosis type 1; Tumor predisposition syndrome; Nervous system; RASopathy; Plexiform neurofibroma; Cutaneous neurofibroma
Neurofibromatosis type 1 (NF1), NF2, and schwannomatosis are related, but distinct, tumor suppressor syndromes characterized by a predilection for tumors in the central and peripheral nervous systems. NF1 is one of the most common autosomal dominant conditions of the nervous system. NF1 has a high degree of variability in clinical presentation, which may include multiple neoplasms as well as cutaneous, vascular, bony, and cognitive features. Some of these manifestations overlap with other genetic conditions. Accurate diagnosis of NF1 is important for individualizing clinical care and genetic counseling. This article summarizes the clinical features, diagnostic work-up, and management of NF1.
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