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…
Systematic review and meta-analysis of vosoritide in children with achondroplasia shows growth gains and injection site reactions
New Treatment Linked to Faster Growth in Children With Achondroplasia
This systematic review and single-arm meta-analysis evaluated vosoritide in children with genetically confirmed achondroplasia across 13 stu…
A new review shows a specific drug can help children with achondroplasia grow taller over one year.
Systematic review details McCune-Albright syndrome prevalence, genetics, and clinical framework
Review summarizes current understanding of rare McCune-Albright syndrome
A systematic review synthesizes evidence on McCune-Albright syndrome (MAS), a rare mosaic disorder.
McCune-Albright syndrome is a rare genetic condition affecting bone, skin, and hormones, caused by random early-life mutations in the GNAS g…