Article
The Genetic Architecture of High Bone Mass.
Frontiers in endocrinology - 1 Jan 2020
Gregson Celia L, Duncan Emma L
Abstract excerpt
The phenotypic trait of high bone mass (HBM) is an excellent example of the nexus between common and rare disease genetics. HBM may arise from carriage of many 'high bone mineral density [BMD]'-associated alleles, and certainly the genetic architecture of individuals with HBM is enriched with high BMD variants identified through genome-wide association studies of BMD. HBM may also arise as a monogenic skeletal...
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