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Title Neurofibromatoses / volume editor, Dieter Kaufmann
Published Basel ; New York : Karger, ©2008


Description 1 online resource (x, 192 pages) : illustrations (some color)
Series Monographs in human genetics, 0077-0876 ; v. 16
Monographs in human genetics ; v. 16. 0077-0876
Contents The neurofibromatoses: classification, clinical features, and genetic counselling / S.M. Huson -- Treatment and management of neurofibromatosis 1 / V.F. Mautner, E. Boltshauser -- Neurofibromatosis type 1 and other syndromes of the Ras pathway / D.A. Stevenson, J.J. Swensen, D.H. Viskochil -- NF1 gene structure and NF1 genotype/phenotype correlations / M. Upadhyaya -- NF1 mutational spectrum / L.M. Messiaen, K. Wimmer -- Clinical phenotypes in patients with NF1 microdeletions / S. Tinschert
Structure of the NF1 gene region and mechanisms underlying gross NF1 deletions / H. Kehrer-Sawatzki -- NF1 gene evolution in mammals / G. Assum, C. Schmegner -- Structure and function of neurofibromin / S. Welti, I. D'Angelo, K. Scheffzek -- Composition of neurofibromas, NF1 expression, and comparison of normal and NF1 haploinsufficient cells / J. Peltonen, S. Peltonen -- Somatic NF1 mutations in tumors and other tissues / T. De Raedt [and others] -- NF2: mutations and management of disease / D.G.R. Evans, A. Wallace -- Function of merlin in genesis of tumours and other symptoms of NF2 / C.O. Hanemann -- Molecular studies on schwannomatosis / L. Kluwe
Summary The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the
Bibliography Includes bibliographical references and indexes
Notes Print version record
Subject Neurofibromatosis -- Genetic aspects
Neurofibromatoses -- genetics
Neurofibromatoses -- physiopathology
MEDICAL -- Oncology.
Neurofibromatosis -- Genetic aspects
Form Electronic book
Author Kaufmann, Dieter, 1948-
ISBN 9783805585217