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Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.
Pelosini C, Martinelli S, Ceccarini G, Magno S, Barone I, Basolo A, Fierabracci P, Vitti P, Maffei M, Santini F. Pelosini C, et al. Among authors: basolo a. Metabolism. 2014 Nov;63(11):1385-9. doi: 10.1016/j.metabol.2014.07.010. Epub 2014 Jul 25. Metabolism. 2014. PMID: 25131834
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