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POLD1基因突变导致的下颌骨发育不良-耳聋-早老及脂肪营养不良综合征1例报告
何逸飞,李慧,鲁瑾*
0
(海军军医大学(第二军医大学)第一附属医院内分泌科, 上海 200433
*通信作者)
摘要:
关键词:  DNA聚合酶δ1催化亚单位  脂肪萎缩  糖尿病  性腺功能减退症
DOI:10.16781/j.CN31-2187/R.20200934
投稿时间:2020-07-01修订日期:2020-12-04
基金项目:
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome caused by POLD1 mutation:a case report
HE Yi-fei,LI Hui,LU Jin*
(Department of Endocrinology, The First Affiliated Hospital of Naval Medical University (Second Military Medical University), Shanghai 200433, China
*Corresponding author)
Abstract:
Key words:  DNA polymerase δ1 catalytic subunit  lipoatrophy  diabetes mellitus  hypogonadism