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Arun Mariappan

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Case report Open access Sep 2026

Beyond osteopoikilosis: a blended skeletal dysplasia associated with dual LEMD3 and ANO5 variants

Abstract Osteopoikilosis is a rare autosomal dominant sclerosing bone dysplasia caused by pathogenic variants in LEMD3, which is typically asymptomatic and incidentally detected on radiographs. Gnathodiaphyseal dysplasia is an extremely rare skeletal disorder characterized by diaphyseal sclerosis, bone fragility, and p...

Arun Mariappan, V. Jha, Amal Shaharyar et al. · 0 citations

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