Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders

CONTEXT: Many different inherited and acquired conditions can result in premature bone fragility/low bone mass disorders (LBMDs). OBJECTIVE: We aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms....

Full description

Bibliographic Details
Main Authors: Barvencik, F. (Author), Beller, G. (Author), Delsmann, A. (Author), Ehmke, N. (Author), Genest, F. (Author), Hofbauer, L.C (Author), Jakob, F. (Author), Kornak, U. (Author), Krüger, U. (Author), Mundlos, S. (Author), Oheim, R. (Author), Rolvien, T. (Author), Schinke, T. (Author), Schubach, M. (Author), Seefried, L. (Author), Stürznickel, J. (Author), Tsourdi, E. (Author), Vettorazzi, E. (Author), Zemojtel, T. (Author)
Format: Article
Language:English
Published: NLM (Medline) 2022
Subjects:
adult
Adult
bone density
Bone Density
female
Female
genetic risk score
genetics
genotype
Genotype
genotype-phenotype correlation
high throughput sequencing
High-Throughput Nucleotide Sequencing
human
Humans
low bone mass disorder
male
Male
monogenic disorder
mutation
Mutation
osteogenesis imperfecta
Osteogenesis Imperfecta
osteoporosis
Osteoporosis
rare genetic variant
Spinal Fractures
spine fracture
Online Access:View Fulltext in Publisher

Internet

View Fulltext in Publisher

Similar Items