Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications.

Abstract excerpt

Autosomal Dominant Osteopetrosis type 2 (ADO2) is a rare genetic disease characterized by dense yet fragile bones. To date, the radiological approach remains the gold standard for ADO2 diagnosis. However, recent observations unveiled that ADO2 is a systemic disease affecting various organs beyond bone, including lung, kidney, muscle, and brain. Monitoring disease status and progression would greatly benefit from...

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