RANK-Dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations

Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts. Most human AROs are classified as osteoclast rich, but recently two subsets of osteoclast-poor ARO have been recognized as caused by defects in either TNFSF11 or TNFR...

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Hauptverfasser: Pangrazio, Alessandra, Cassani, Barbara, Guerrini, Matteo M, Crockett, Julie C, Marrella, Veronica, Zammataro, Luca, Strina, Dario, Schulz, Ansgar, Schlack, Claire, Kornak, Uwe, Mellis, David J, Duthie, Angela, Helfrich, Miep H, Durandy, Anne, Moshous, Despina, Vellodi, Ashok, Chiesa, Robert, Veys, Paul, Lo Iacono, Nadia, Vezzoni, Paolo, Fischer, Alain, Villa, Anna, Sobacchi, Cristina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley Subscription Services, Inc., A Wiley Company 2012
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306792/
https://ncbi.nlm.nih.gov/pubmed/22271396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.559
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