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

标题
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
作者
关键词
Lipodystrophy, POLD1, gene, Whole-exome sequencing, MDPL syndrome, ZnF2
出版物
METABOLISM-CLINICAL AND EXPERIMENTAL
Volume 71, Issue -, Pages 213-225
出版商
Elsevier BV
发表日期
2017-03-28
DOI
10.1016/j.metabol.2017.03.011

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