Mutations in WNT1 cause different forms of bone fragility

Mutations in WNT1 cause different forms of bone fragility

We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis imperfecta, a congenital disorder characterized by reduced bone mass and recurrent fractures. In consanguineous families, we identified five homozygous mutations in WNT1: one frameshift mutation, two missense mutati...

Full description

Bibliographic Details
Main Authors: Keupp, K., Beleggia, F., Kayserili, H., Barnes, A., Steiner, M., Semler, O., Fischer, B., Yigit, G., Janda, C., Becker, J., Breer, S., Altunoglu, U., Grünhagen, J., Krawitz, P., Hecht, J., Schinke, T., Makareeva, E., Lausch, E., Cankaya, T., Caparrós-Martín, Jose, Lapunzina, P., Temtamy, S., Aglan, M., Zabel, B., Eysel, P., Koerber, F., Leikin, S., Garcia, K., Netzer, C., Schönau, E., Ruiz-Perez, V., Mundlos, S., Amling, M., Kornak, U., Marini, J., Wollnik, B.
Format: Journal Article
Published: Cell Press 2013
Online Access:http://hdl.handle.net/20.500.11937/66753

Internet

http://hdl.handle.net/20.500.11937/66753

Similar Items