ArticleJournal of clinical research in pediatric endocrinology2026
X-linked Osteoporosis due to PLS3 Pathogenic Variant: Case Report on Zoledronic Acid Treatment in Siblings
Article in Journal of clinical research in pediatric endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Osteoporosis in children is a rare condition, often associated with genetic factors. Monogenic forms of osteoporosis linked to the X chromosome are often related to mutations in the gene encoding plastin 3 (PLS3). PLS3 is a protein involved in actin bundle formation in the cytoskeleton. We present two brothers with recurrent peripheral fractures and vertebral compression fractures, both associated with low bone mineral density (BMD). The patients shared the same deletion (c.589_590) in
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