Segmental neurofibromatosis A.K.A. neurofibromatosis type 5: antiquated terminology for a mosaic form of neurofibromatosis?
โ Scribed by Roopal R Shanghvi; Karen Kim; Eve Lowenstein
- Book ID
- 116578631
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 55 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1097-6787
No coin nor oath required. For personal study only.
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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
It is known that neurofibromatosis 1 is associated with lower IQ in affected individuals than in their unaffected relatives. This disorder once was thought t o be a model for Rourke's syndrome of nonverbal learning disabilities, but recent research has revealed that the cognitive phenotype is broade