Pathogenic SGMS2 variants are not a common cause of early-onset osteoporosis among Finnish patients.

Abstract excerpt

Background: Primary osteoporosis can be caused by pathogenic variants in multiple genes. Recently, rare heterozygous variants in SGMS2, encoding SGMS2, have been identified to cause early-onset osteoporosis or more severe skeletal dysplasia. The incidence of pathogenic SGMS2 variants and their consequent clinical features, however, remain limited. Methods: This study aimed to identify the prevalence and nature of...

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