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170 Segmental/mosaic neurofibromatosis type 1 (NF1): A clinical study

✍ Scribed by M. Ruggieri; C. Moss; M. Upadhyaya; S.M. Huson


Book ID
114361057
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
272 KB
Volume
3
Category
Article
ISSN
1090-3798

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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