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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2012
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306792/
https://www.ncbi.nlm.nih.gov/pubmed/22271396
http://dx.doi.org/10.1002/jbmr.559

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