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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I, Patni N, Ueda M, Sorkina E, Valerio CM, Cochran E, Brown RJ, Peeden J, Tikhonovich Y, Tiulpakov A, Stender SRS, Klouda E, Tayeh MK, Innis JW, Meyer A, Lal P, Godoy-Matos AF, Teles MG, Adams-Huet B, Rader DJ, Hegele RA, Oral EA, Garg A. Hussain I, et al. J Clin Endocrinol Metab. 2018 Mar 1;103(3):1005-1014. doi: 10.1210/jc.2017-02078. J Clin Endocrinol Metab. 2018. PMID: 29267953 Free PMC article.
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Kovalskaia VA, Kungurtseva AL, Bostanova FM, Vasiliev PA, Tabakov VY, Orlova MD, Povolotskaya IS, Novoselova OG, Bikanov RA, Akhyamova MA, Tikhonovich YV, Popovich AV, Vitebskaya AV, Dadali EL, Ryzhkova OP. Kovalskaia VA, et al. Among authors: tikhonovich yv. Genes (Basel). 2024 Jan 29;15(2):180. doi: 10.3390/genes15020180. Genes (Basel). 2024. PMID: 38397171 Free PMC article.