29Sep 2022
High Bone Mass Disorders: New Insights from Connecting the Clinic and the Bench

High Bone Mass Disorders: New Insights from Connecting the Clinic and the Bench

Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general or at specific sites in the skeleton. The article classifies the known HBM genes into HBM (sub)groups according to uniform Gene Ontology (GO) terminology. This classification system may aid in hypothesis generation for wet lab experimental design and clinical genetic screening strategies. In addition, the study addresses strategies to improve gene identification in unsolved HBM cases and highlights the importance of cross‐laboratory collaborations encompassing multidisciplinary efforts to transfer knowledge generated at the bench to the clinic.

  • #orthopaedics

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