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T1  - A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders 
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UR  - http://hdl.handle.net/10138/335926 
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A1  - GEMSTONE Working Grp 3 COST Action; Formosa, Melissa M.; Bergen, Dylan J. M.; Gregson, Celia L.; Mäkitie, Outi 
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Y1  - 2021 
LA  - eng 
AB  - Genetic disorders of the skeleton encompass a diverse group of bone diseases differing in clinical characteristics, severity, incidence and molecular etiology. Of particular interest are the monogenic rare bone mass disorders, with the underlying genetic defect contributing to either low or high bone mass phenotype. Extensive, deep phenotyping coupled with high-throughput, cost-effective genotyping is crucial in the characterization and diagnosis of affected individuals. Massive parallel sequenc... 
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KW  - bone mass; monogenic bone disorders; gene variants; functional validation; drug discovery; GEMSTONE; skeletal dysplasia; AUTOSOMAL-DOMINANT OSTEOPETROSIS; ALBERS-SCHONBERG-DISEASE; MOUSE MODELS; OSTEOGENESIS IMPERFECTA; BUCHEM-DISEASE; OSTEOPOROSIS; MUTATION; SCLEROSTEOSIS; LIMITATIONS; DEFICIENCY; 3121 General medicine, internal medicine and other clinical medicine 
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