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  Skeletal abnormalities in neurofibromatosis type 1 : approaches to therapeutic options

Elefteriou, F., Kolanczyk, M., Schindeler, A., Viskochil, D. H., Hock, J. M., Schorry, E. K., et al. (2009). Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American Journal of Medical Genetics Part A, 149A(10), 2327-2338. doi:10.1002/ajmg.a.33045.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7CFC-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7CFD-9
Genre: Journal Article
Alternative Title : Am J Med Genet A

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 Creators:
Elefteriou, Florent, Author
Kolanczyk, Mateusz1, Author              
Schindeler, Aaron, Author
Viskochil, David H., Author
Hock, Janet M., Author
Schorry, Elizabeth K., Author
Crawford, Alvin H., Author
Friedman, Jan M., Author
Little, David, Author
Peltonen, Juha, Author
Carey, John C., Author
Feldman, David, Author
Yu, Xijie, Author
Armstrong, Linlea, Author
Birch, Patricia, Author
Kendler, David L., Author
Mundlos, Stefan1, Author              
Yang, Feng-Chun, Author
Agiostratidou, Gina, Author
Hunter-Schaedle, Kim, Author
Stevenson, David A., Author more..
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: neurofibromatosis; NF1; bone; skeletal dysplasia; osteoblast; osteoclast; tibial dysplasia; pseudarthrosis
 Abstract: The skeleton is frequently affected in individuals with neurofibromatosis type 1, and some of these bone manifestations can result in significant morbidity. The natural history and pathogenesis of the skeletal abnormalities of this disorder are poorly understood and consequently therapeutic options for these manifestations are currently limited. The Children's Tumor Foundation convened an International Neurofibromatosis Type 1 Bone Abnormalities Consortium to address future directions for clinical trials in skeletal abnormalities associated with this disorder. This report reviews the clinical skeletal manifestations and available preclinical mouse models and summarizes key issues that present barriers to optimal clinical management of skeletal abnormalities in neurofibromatosis type 1. These concepts should help advance optimal clinical management of the skeletal abnormalities in this disease and address major difficulties encountered for the design of clinical trials.

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Language(s): eng - English
 Dates: 2009-10
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Degree: -

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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 149A (10) Sequence Number: - Start / End Page: 2327 - 2338 Identifier: ISSN: 1552-4825