Next-generation sequencing for disorders of low and high bone mineral density

INTRODUCTION: Osteogenesis imperfecta (OI), Ehlers-Danlos syndrome (EDS), and osteopetrosis (OPT)are collectively common inherited skeletal diseases. Evaluation of subjects with these conditions often includes molecular testing which has important counseling, therapeutic and sometimes legal implicat...

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Detalhes bibliográficos
Main Authors: Sule, Gautam, Campeau, Philippe M., Zhang, Victor Wei, Nagamani, Sandesh C.S., Dawson, Brian C., Grover, Monica, Bacino, Carlos A., Sutton, V. Reid, Brunetti-Pierri, Nicola, Lu, James T., Lemire, Edmond, Gibbs, Richard A., Cohn, Dan H., Cui, Hong, Wong, Lee-Jun C., Lee, Brendan H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709009/
https://ncbi.nlm.nih.gov/pubmed/23443412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00198-013-2290-0
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