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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.

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

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.

This review discusses various syndromes of severe insulin resistance, their biochemical and clinical features, and potential therapeutic options, but it reports no new clinical results.

This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.