Article
Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool.
American journal of medical genetics - 1 Dec 1994
Elyakim S, Lerer I, Zlotogora J, Sagi M, Gelman-Kohan Z, Merin S, Abeliovich D
Abstract excerpt
Linkage analysis of 18 neurofibromatosis type I (NFI) families was performed using intragenic and flanking polymorphic markers. The aims of the analysis were prenatal diagnosis of at-risk fetuses, and of asymptomatic individuals who were relatives of NFI patients. Prenatal diagnosis was performed in 9 pregnancies of 7 families; 5 fetuses were diagnosed as affected. In 6 families with an affected spouse, the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.