Article
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.
Metabolism: clinical and experimental - 1 Nov 2014
Pelosini Caterina, Martinelli Silvia, Ceccarini Giovanni, Magno Silvia, Barone Ilaria, Basolo Alessio, Fierabracci Paola, Vitti Paolo, Maffei Margherita, Santini Ferruccio
Abstract excerpt
OBJECTIVE: Progressive lipodystrophy is one of the major features of the rare MDPL syndrome. Until now, 9 patients affected by this syndrome have been described and a recent study identified in 4 of them an in-frame deletion (Ser605del) of a single codon in the POLD1 gene. Sequence alterations of the POLD1 gene at different sites have been previously reported in human colorectal and endometrial carcinomas....
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