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A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection.

Chinese medical journal - 20 Aug 2020

Wang Xiu-Wen, Lu Ling-Yun, Xie Ying, Yu Xi-Jie

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PMID: 32826474
DOI: 10.1097/CM9.0000000000000986
PMCID: PMC7462222

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