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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| Description | scientific article |
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author: Annachiara De Sandre-Giovannoli Jean-Pierre Desvignes Richard Caswell Sian Ellard |
| Publication date | March 28, 2017 |
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