Segmental Neurofibromatosis
Authors:
H. Jedličková 1; J. Feit 2
Authors place of work:
I. dermatovenerologická klinika, FN U sv. Anny v Brně a LF MU
přednosta doc. MUDr. Vladimír Vašků, CSc.
1; Patologický ústav, FN Brno, LF MU
přednosta doc. MUDr. Josef Feit. CSc.
2
Published in the journal:
Čes-slov Derm, 84, 2009, No. 3, p. 145-147
Category:
Case Reports
Summary
Segmental neurofibromatosis is a rare variant of neurofibromatosis limited to one or several body areas. It is caused by postzygotic mutation in the neurofibromatosis I gene, resulting in somatic mosaicism. A case of a young woman with segmental neurofibromatosis on the trunk and hypodontia is described.
Key words:
neurofibromatosis – segmental variant
Zdroje
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7. Tinschert, S., Naumann, I., Stegmann, E., Buske, A., Kaufmann, D., Thiel, G., Jenne, dE. Segmental neurofbromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF 1) gene. Eur J Human Genetics, 2000, 8, p. 455-459.
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Štítky
Dermatology & STDs Paediatric dermatology & STDsČlánok vyšiel v časopise
Czech-Slovak Dermatology
2009 Číslo 3
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