Article
Mosaicism in sporadic neurofibromatosis 2 patients.
Human molecular genetics - 1 Dec 1998
Kluwe L, Mautner V F
Abstract excerpt
More than half of neurofibromatosis 2 (NF2) patients represent de novo mutations which could have occurred at either pre-zygotic or post-zygotic stages. A post-zygotic mutation can result in mosaicism. In four sporadic NF2 patients, we found NF2 mutations in only a portion of corresponding leukocytes. In two other sporadic patients, no mutations were found in leukocytes but constitutional NF2 mutations were...
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