Retrospective analysis of patients attending a neurofibromatosis type 1 clinic
β Scribed by Fiona Noble; Andrew J Kornberg; James E Elder; Martin B Delatycki
- Book ID
- 108955149
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 77 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1034-4810
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Neurofibromatosis type 1 (NF1) is characterized by clinical features that primarily affect tissues derived from the neural crest (neurofibromas, caf~-aulait macules). Because aberrant regulation of alternative splicing in the NF1 gene transcript may be of functional significance, cultured melanocyte
## Abstract The gene for von Recklinghausen neurofibromatosis (NF1) is on proximal 17q; the location of the gene for achondroplasia (ACH) is unknown. We have begun a molecular analysis of a patient with mental retardation, NF1 and ACH, a clinical presentation suggestive of a contiguous gene syndrom
## Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1. Very little information exists on the natural history and pathogenesis of PA in NF1. This report