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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
Aug 2026

Clinical Profile, Biochemical Characteristics, and Surgical Outcomes in Cushing Disease: An Age-Stratified Analysis of a Large Tertiary-Care Cohort.

OBJECTIVE To characterize the clinical, biochemical, radiological, and surgical profile of Cushing disease in a large tertiary-care cohort, with emphasis on age-stratified differences. METHODS This retrospective observational audit included 277 patients with confirmed Cushing disease managed at a high-volume tertiary...

R. Pooja, V. Jha, Kavyanjali Kundu et al. · 0 citations

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