一个同时患有冯·雷克林霍增氏神经纤维瘤病和冯·希佩尔－林道病的家族。这两种疾病可能源自同一个共同基因。
A family with coexistent von Recklinghausen's neurofibromatosis and von Hippel-Lindau's disease. Diseases possibly derived from a common gene.
作者信息
Tishler P V
出版信息
Neurology. 1975 Sep;25(9):840-4. doi: 10.1212/wnl.25.9.840.
A large kindred has two coexistent neurocutaneous syndromes: Certain members appear to have von Recklinghausen's neurofibromatosis (cutaneous neurofibromata, cafe-au-lait spots), others have von Hippel-Lindau's disease (angiomatosis retinae, renal cell carcinomas, pancreatic cysts), and at least one individual has a combined syndrome (neurofibromata, cafe-au-lait spots, pheochromocytomas, cerebellar hemangioblastoma, renal cell carcinoma, pancreatic cysts). Inheritance may be through either two separate genes segregating coincidentally in this family, or a unique single gene with pleiotropic expressivity.
一个大家族中存在两种并存的神经皮肤综合征
部分成员似乎患有冯·雷克林霍增氏神经纤维瘤病（皮肤神经纤维瘤、咖啡斑），另一些成员患有冯·希佩尔－林道病（视网膜血管瘤病、肾细胞癌、胰腺囊肿），并且至少有一人患有联合综合征（神经纤维瘤、咖啡斑、嗜铬细胞瘤、小脑成血管细胞瘤、肾细胞癌、胰腺囊肿）。遗传方式可能是通过在这个家族中巧合分离的两个不同基因，或者是一个具有多效性表达的独特单基因。
Zotero 插件