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PubMed for id: 4000

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Page 1
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A, Navarro C, Ozalp O, Lourenco CM, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha LA, Chaouch M, Lessel D, De Sandre-Giovannoli A. Saadi A, et al. Am J Med Genet A. 2023 Sep;191(9):2274-2289. doi: 10.1002/ajmg.a.63335. Epub 2023 Jun 30. Am J Med Genet A. 2023. PMID: 37387251
Epigenetics in LMNA-Related Cardiomyopathy.
Wang Y, Dobreva G. Wang Y, et al. Cells. 2023 Mar 1;12(5):783. doi: 10.3390/cells12050783. Cells. 2023. PMID: 36899919 Free PMC article. Review.
1,019 results