| Literature DB >> 808759 |
Abstract
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.Entities:
Mesh:
Year: 1975 PMID: 808759 DOI: 10.1212/wnl.25.9.840
Source DB: PubMed Journal: Neurology ISSN: 0028-3878 Impact factor: 9.910