Mosaic type-1 NF1 microdeletions as a ca
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Ludwine Messiaen; Julia Vogt; Kathrin Bengesser; Chuanhua Fu; Fady Mikhail; Edua
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Article
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2011
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John Wiley and Sons
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English
⚖ 203 KB
Mosaicism is an important feature of type-1 neurofibromatosis (NF1) on account of its impact upon both clinical manifestations and transmission risk. Using FISH and MLPA to screen 3500 NF1 patients, we identified 146 individuals harboring gross NF1 deletions, 14 of whom (9.6%) displayed somatic mosa