The Genetic Aspects of Neurofibromatosis Type I

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Identifier 19920223_nanos_geneticsnosympos_02
Title The Genetic Aspects of Neurofibromatosis Type I
Creator Gregory Kosmorsky, DO
Affiliation Cleveland Clinic, Cleveland, OH
Subject Neurofibromatosis Type I; Genetic Aspects; Polymorphism; Hybridization; Proto-oncogene; Translocation
Description Neurofibromatosis type I (NF-I) is a common disorder affecting approximately one in every 3,500 - 4,000 people. Although, the dominant mutant allele seems to be fully penetrant, the clinical expressivity is highly variable, ranging from insignificant caf6-au-lait spots to malignant neurofibrosarcomas. Approximately one-half ofthe patients are born with NF-I will suffer serious medical and social complications. NF-I is a heterogeneous disease with numerous manifestations. Heterogeneity has both clinical and etiologic levels. Clinical heterogeneity has two elements, one of these simply reflects a variation (that is degree ortype of expression), and one that may at least potentially reflect distinct entities.
Date 1992-02-24
Language eng
Format application/pdf
Type Text
Source 1992 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS 1992: Genetics in Neuro-Ophthalmology
Collection Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management Copyright 1992. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6gf415h
Setname ehsl_novel_nam
ID 182982
Reference URL https://collections.lib.utah.edu/ark:/87278/s6gf415h
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