ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0020.3-5 | Advances in Clinical Practice | ESPEYB20

3.5. High bone mass disorders: New insights from connecting the clinic and the bench

DJM Bergen , A Maurizi , MM Formosa , GLK McDonald , A El-Gazzar , N Hassan , ML Brandi , JA Riancho , F Rivadeneira , E Ntzani , EL Duncan , CL Gregson , DP Kiel , MC Zillikens , L Sangiorgi , W Hogler , I Duran , O Makitie , W Van Hul , G Hendrickx

In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) <em...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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