News on in vitro diagnostics for musculoskeletal disorders.
Using data for more than 500,000 individuals, researchers found 15 fracture-linked loci and saw genetic interactions between fracture and bone mineral density.
Using genotype and phenotype data from the UK Biobank project, a Stanford investigator uncovered variants linked to low bone mineral density.
Using exome sequences from individuals with developmental delays, heart defects, and limb abnormalities, investigators identified four TRAF7 mutations.
The program is open to anyone in the US or in Puerto Rico who is suspected of having SMA or needs confirmation of the disease via genetic testing.
