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Autosomal recessive osteopetrosis 7

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.

Systematic

Osteopetrosis
Autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 7
TNFRSF11A
Combined renal tubular acidosis 3 with osteopetrosis 3

References:

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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2.

Guerrini MM et. al. (2008) Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

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3.

Hanada R et. al. (2009) Central control of fever and female body temperature by RANKL/RANK.

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Update: Aug. 14, 2020
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