1型神经纤维瘤病与NF1基因微缺失的一个实例
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
作者信息
Praxedes L A, Pereira F M, Mazzeu J F, Costa S S, Bertola D R, Kim C A, Vianna-Morgante A M, Otto P A
机构信息
Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Brasília, Brazil.
出版信息
Mol Syndromol. 2010 Sep;1(3):133-135. doi: 10.1159/000319976. Epub 2010 Sep 14.
Abstract
We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
摘要
我们报告了一名患有NF1微缺失的患者，其临床表现符合1型神经纤维瘤病的诊断标准，但也具有一些类似变形综合征的特征。
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