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  Segmental Neurofibromatosis

Schultz, E. S., Kaufmann, D., Tinschert, S., Schell, H., von den Driesch, P., & Schuler, G. (2002). Segmental Neurofibromatosis. Dermatology, 204(4), 296-297.

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 Creators:
Schultz, Erwin S., Author
Kaufmann, Dieter, Author
Tinschert, Sigrid1, Author              
Schell, Hermann, Author
von den Driesch, Peter, Author
Schuler, Gerold, Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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 Abstract: Segmental neurofibromatosis is characterised by a limited, segmental distribution of cutaneous neurofibromatosis type 1 (NF1) lesions. It has been suggested that segmental NF results from a postzygotic NF1 gene mutation, and, recently, this hypothesis has been proven in a patient with regionally distributed café-au-lait (CAL) spots and freckles by demonstrating an NF1 microdeletion restricted to fibroblasts cultured from CAL spots. We describe here a patient with segmental NF in which we could not demonstrate any NF1 gene mutation in fibroblasts cultured from neurofibromas by use of the protein truncation test, enzymatic mutation detection and fluorescence in situ hybridisation. These data are in line with the concept that NF1 mutations in Schwann cells, but not in fibroblasts, correlate with neurofibroma formation.

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Language(s): eng - English
 Dates: 2002-04
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 25786
 Degree: -

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Title: Dermatology
Source Genre: Journal
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Pages: - Volume / Issue: 204 (4) Sequence Number: - Start / End Page: 296 - 297 Identifier: -