These authors contributed equally to this article.
RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations†
Version of Record online: 23 JAN 2012
Copyright © 2012 American Society for Bone and Mineral Research
Journal of Bone and Mineral Research
Volume 27, Issue 2, pages 342–351, February 2012
How to Cite
Pangrazio, A., Cassani, B., Guerrini, M. M., Crockett, J. C., Marrella, V., Zammataro, L., Strina, D., Schulz, A., Schlack, C., Kornak, U., Mellis, D. J., Duthie, A., Helfrich, M. H., Durandy, A., Moshous, D., Vellodi, A., Chiesa, R., Veys, P., Lo Iacono, N., Vezzoni, P., Fischer, A., Villa, A. and Sobacchi, C. (2012), RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations. J Bone Miner Res, 27: 342–351. doi: 10.1002/jbmr.559
Re-use of this article is permitted in accordance with the Terms and Conditions set out at http://wileyonlinelibrary.com/onlineopen#OnlineOpen_Terms.
- Issue online: 23 JAN 2012
- Version of Record online: 23 JAN 2012
- Accepted manuscript online: 9 NOV 2011 03:13PM EST
- Manuscript Accepted: 21 OCT 2011
- Manuscript Revised: 29 JUL 2011
- Manuscript Received: 16 MAR 2011
- Unknown funding agency
Additional Supporting Information may be found in the online version of this article.
|jbmr_559_sm_SupplFig1.tif||47K||Supplementary Figure 1. Black circles or squares in the pedigrees indicate affected members with both mutated alleles. Half-black circles or squares indicate heterozygous members with only one mutated allele. White symbols indicate members not analysed.|
|jbmr_559_sm_SupplFig2.tif||19434K||Supplementary Figure 2. (A) Highly mineralised bone tissue revealed multiple cutting artifacts (red arrow) and irregular net-like trabecular structure (white arrow). Intertrabecular spaces (yellow arrow) were scarce and showed neither adipocytes nor islands of haematopoiesis (embedding in methyl-methacrylate without decalcification, stain: toluidine blue, original magnification: x50). (B) Detail. Irregular bone trabeculae contained preferentially a mineralised primary spongiosa similar to calcified cartilage (white arrow). Lamellar structured mature bone tissue was not present. However, few osteocytes surrounded by a ring of more mature appearing bone were apparent both within the primary spongiosa (red arrow) and on the trabecular surface. Although few flat (lining cell-like) cells were evident on the trabecular surface, no sign of metabolic active osteoblasts was found in the biopsy specimen. Osteoclasts were not detected using conventional staining methods. Vascularised loose fibrotic tissue with scattered isolated haematopoietic cells occupied the intertrabecular spaces (embedding in methylmethacrylate without decalcification, stain: Giemsa, original magnification: x400).|
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