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A group of bone disorders caused by autosomal dominant or recessive mutation(s) in multiple genes involved in osteoclast function, including TCIRG1, CLCN7, OSTM1, SNX10, and PLEKHM1. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it can also be associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment.
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