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A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.
Xiu-Wen Wang, Ling-Yun Lu, Ying Xie, Xi-Jie Yu
Chinese medical journal 2020 Aug 20
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Citation
Xiu-Wen Wang, Ling-Yun Lu, Ying Xie, Xi-Jie Yu.
A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.
Chinese medical journal.
2020 Aug 20;133(16):2009-2011
Mesh Tags
China
DNA Polymerase III
Deafness
Female
Humans
Lipodystrophy
Mutation
Phenotype
Substances
POLD1 protein, human
DNA Polymerase III
PMID: 32826474
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