Autosomal recessive osteopetrosis 7 is caused by Mutations of the TNFRSF11A gene. In addition the osteopetrotic bonde formation this type is also characterized by hypogammaglobulinemia.
1. |
Blair HC et. al. (2004) In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects. |
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Guerrini MM et. al. (2008) Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. |
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Hanada R et. al. (2009) Central control of fever and female body temperature by RANKL/RANK. |