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    Research 18

    1. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    2. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    3. Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies Cells · 2023 · 4 citations
    4. Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu <i>LMNA</i> mutation and in their asymptomatic heterozygotic mothers Journal of Clinical Pathology · 2013 · 2 citations
    5. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    6. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    7. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    8. Premature aging syndromes: From patients to mechanism Journal of dermatological science · 2019 · 29 citations
    9. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    10. Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells Cells · 2019 · 51 citations
    11. Syndromes of Severe Insulin Resistance (SSIRs) 2004
    12. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    13. A Clinical Approach to Severe Insulin Resistance KARGER eBooks · 2007 · 32 citations
    14. Diseases of Periocular Hair Survey of Ophthalmology · 2011 · 7 citations
    15. Animals in Dermatology 2024
    16. Extracellular vesicles in age-related diseases: disease pathogenesis, intervention, and biomarker Stem Cell Research & Therapy · 2025 · 9 citations
    17. Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding Journal of Clinical Investigation · 2023 · 4 citations
    18. The Genetics of Acne Annals of Human Genetics · 2025