Expanding the Genotypic and Phenotypic Spectrum of P3H1 Related Osteogenesis Imperfecta
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Osteogenesis Imperfecta (OI) is a genetically heterogeneous disorder with a clinical spectrum ranging from mild to severe. Biallelic P3H1 (OMIM*610339) variants are generally associated with a severe recessive phenotype. This study reports six individuals from... ...
