Article
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
Frontiers in endocrinology - 1 Jan 2021
Formosa Melissa M, Bergen Dylan J M, Gregson Celia L, Maurizi Antonio, Kämpe Anders, Garcia-Giralt Natalia, Zhou Wei, Grinberg Daniel, Ovejero Crespo Diana, Zillikens M Carola, Williams Graham R, Bassett J H Duncan, Brandi Maria Luisa, Sangiorgi Luca, Balcells Susanna, Högler Wolfgang, Van Hul Wim, Mäkitie Outi
Abstract excerpt
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...
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