Whole exome sequencing identifies pathogenic variants and genotype-phenotype correlations in osteogenesis imperfecta
New Genetic Clues Explain Why Some Bone Cases Are More Severe
This cohort study evaluated 77 Chinese families with clinically suspected osteogenesis imperfecta using whole exome sequencing and clinical …
A new study of 77 Chinese families found 21 new genetic causes of brittle bone disease and showed that where the error sits in a key protein…
