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1型神经纤维瘤病

Neurofibromatosis type 1.

作者信息

Morse R P

机构信息

Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

出版信息

Arch Neurol. 1999 Mar;56(3):364-5. doi: 10.1001/archneur.56.3.364.

Abstract

Neurofibromatosis (NF) has perhaps been the most notorious of the neurocutaneous disorders. Both Quasimoto of Victor Hugo's The Hunchback of Notre Dame and John Merrick, known as the Elephant Man (who subsequently has been more properly classified as having Proteus syndrome, a quite different disorder), are 2 infamous examples that have shaped many popular misconceptions about this disease. Neurofibromatosis is now understood as a hamartomatous disorder on the basis of molecular genetic studies. Studies on NF have been pivotal to understanding the functions of oncogenes in tumorigenesis.

摘要

神经纤维瘤病(NF)可能是最声名狼藉的神经皮肤疾病。维克多·雨果的《巴黎圣母院》中的卡西莫多以及被称为象人的约翰·梅里克(他后来被更准确地归类为患有变形综合征,这是一种截然不同的疾病),都是臭名昭著的例子,它们塑造了许多关于这种疾病的流行误解。基于分子遗传学研究,神经纤维瘤病现在被理解为一种错构瘤性疾病。对NF的研究对于理解癌基因在肿瘤发生中的功能至关重要。

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