Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
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DOI: 10.3389/fendo.2022.935905
Abstract: Purpose Nearly 85%-90% of osteogenesis imperfecta (OI) cases are caused by autosome dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a large proportion, whereas their characteristics remain to be elucidated.… read more here.
Keywords: inherited mutations; inherited col1a1; novo mutations; col1a1 col1a2 ... See more keywords