115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
1 citations
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October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
39 citations
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January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.