Publication | Open Access

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Developmental BiologyGenetic DisorderGeneticsMissense MutationOsteogenesisMolecular GeneticsMedicineOsteoporosisConnective Tissue Disease