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Osteopetrosis
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- ... CLCN7 gene have been identified in people with osteopetrosis. Mutations in this gene can cause several different forms of the disorder: autosomal recessive osteopetrosis (ARO), which is the most severe form; autosomal ...
- ... TCIRG1 gene have been identified in people with osteopetrosis. These mutations cause the most severe form of the disorder, autosomal recessive osteopetrosis (ARO).Many TCIRG1 gene mutations change how the ...
- ... become fully functional. MedlinePlus Genetics provides information about Osteopetrosis More About This Health Condition At least two ... also cause a bone disease called autosomal recessive osteopetrosis (ARO). This disorder appears in infancy and is ...
- ... people with EDA-ID have unusually dense bones (osteopetrosis) and swelling of soft tissues (lymphedema). This is ... how variants in the IKBKG gene contribute to osteopetrosis and lymphedema in people with OL-EDA-ID. ...
- ... This Health Condition MedlinePlus Genetics provides information about Osteopetrosis More About This Health Condition Mutations in the ...
- ... in bone mineral density. These include autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In some ...