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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

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author: Annachiara De Sandre-Giovannoli, Richard Caswell, Sian Ellard, Jean-Pierre Desvignes

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Publication date
March 28, 2017
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